Jerry R. Mendell
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Philosophy Biology
Jerry R. Mendell's Degrees
- Doctorate Medicine University of Cincinnati
- PhD Physiology University of Cincinnati
Why Is Jerry R. Mendell Influential?
(Suggest an Edit or Addition)Jerry R. Mendell's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Therapeutic microRNA Delivery Suppresses Tumorigenesis in a Murine Liver Cancer Model (2009) (1722)
- Single‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy (2017) (1226)
- Astrocytes from Familial and Sporadic ALS Patients are Toxic to Motor Neurons (2011) (704)
- Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liver. (2012) (688)
- The survival motor neuron protein in spinal muscular atrophy. (1997) (677)
- Evidence‐based path to newborn screening for duchenne muscular dystrophy (2012) (620)
- Dystrophin immunity in Duchenne's muscular dystrophy. (2010) (550)
- Chronic inflammatory demyelinating polyradiculoneuropathy. Clinical characteristics, course, and recommendations for diagnostic criteria. (1989) (543)
- Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. (1997) (522)
- Clinical trial in duchenne dystrophy. I. The design of the protocol (1981) (514)
- Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. (1989) (502)
- Inclusion body myositis and myopathies (1995) (482)
- Microvascular deposition of complement membrane attack complex in dermatomyositis. (1986) (435)
- Myoblast transfer in the treatment of Duchenne's muscular dystrophy. (1995) (423)
- A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy (2008) (416)
- Eteplirsen for the treatment of Duchenne muscular dystrophy (2013) (415)
- Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy (2015) (406)
- Clinical investigation in duchenne dystrophy: 2. Determination of the “power” of therapeutic trials based on the natural history (1983) (357)
- Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders (2011) (296)
- Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy (2001) (293)
- Disruption of Dag1 in Differentiated Skeletal Muscle Reveals a Role for Dystroglycan in Muscle Regeneration (2002) (282)
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (2009) (272)
- Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. (1991) (272)
- Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors (2008) (265)
- Painful sensory neuropathy (1999) (258)
- Long‐term benefit from prednisone therapy in Duchenne muscular dystrophy (1991) (256)
- Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy (2010) (252)
- Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy (2007) (244)
- Familial cerebellar ataxia with muscle coenzyme Q10 deficiency (2001) (240)
- Duchenne muscular dystrophy (1989) (238)
- Correlating phenotype and genotype in the periodic paralyses (2004) (236)
- Clinical practice. Painful sensory neuropathy. (2003) (234)
- Sustained alpha‐sarcoglycan gene expression after gene transfer in limb‐girdle muscular dystrophy, type 2D (2010) (219)
- Current Clinical Applications of In Vivo Gene Therapy with AAVs (2020) (215)
- Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates. (2015) (212)
- Amyloid filaments in inclusion body myositis. Novel findings provide insight into nature of filaments. (1991) (199)
- Manual muscle testing (1990) (197)
- Polyneuropathy and IgM monoclonal gammopathy: Studies on the pathogenetic role of anti‐myelin‐associated glycoprotein antibody (1985) (194)
- Rapid direct sequence analysis of the dystrophin gene. (2003) (192)
- Limb‐girdle muscular dystrophy type 2D gene therapy restores α‐sarcoglycan and associated proteins (2009) (192)
- Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiency (1980) (191)
- Toxic polyneuropathy due to methyl n-butyl ketone. An industrial outbreak. (1975) (191)
- LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy (2013) (188)
- A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy. (2015) (187)
- Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. (1998) (184)
- Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease (2009) (183)
- Evidence for anticipation and association of deletion size with severity in facioscapulohumerd muscular dystrophy (1996) (176)
- Duchenne Muscular Dystrophy: Functional Ischemia Reproduces Its Characteristic Lesions (1971) (168)
- Taxol neuropathy. Electrodiagnostic and sural nerve biopsy findings. (1994) (167)
- Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis (2006) (167)
- NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients (2005) (166)
- The clinical spectrum of necrotizing angiopathy of the peripheral nervous system (1985) (163)
- Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy (2013) (160)
- Evidence for central nervous system demyelination in chronic inflammatory demyelinating polyradiculoneuropathy (1987) (158)
- Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy (2001) (157)
- Clinical investigation of Duchenne muscular dystrophy. Interesting results in a trial of prednisone. (1987) (156)
- Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. (1992) (156)
- Autonomic impairment in painful neuropathy (2001) (156)
- Follistatin Gene Delivery Enhances Muscle Growth and Strength in Nonhuman Primates (2009) (154)
- Sodium channel mutations in acetazolamide‐responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis (1994) (153)
- Limb-Girdle Muscular Dystrophy in the United States (2006) (152)
- Randomized trials of dichlorphenamide in the periodic paralyses (2000) (151)
- Duchenne dystrophy (1993) (147)
- Acute renal failure resulting from intravenous immunoglobulin therapy. (1993) (142)
- An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. (1996) (141)
- Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. (2009) (141)
- Clinical and genetic characterization of manifesting carriers of DMD mutations (2010) (139)
- Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy (2020) (136)
- PERIPHERAL NERVE CHANGES INDUCED BY METHYL n‐BUTYL KETONE AND POTENTIATION BY METHYL ETHYL KETONE (1976) (130)
- Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy. (2012) (130)
- Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy (2009) (129)
- Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis (1993) (126)
- Diagnosis of Duchenne dystrophy by enhanced detection of small mutations (2001) (126)
- Gastric hypomotility in Duchenne's muscular dystrophy. (1988) (125)
- The Bruns-Garland syndrome (diabetic amyotrophy). Revisited 100 years later. (1991) (124)
- The relationship of complement-mediated microvasculopathy to the histologic features and clinical duration of disease in dermatomyositis. (1991) (123)
- Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial (2021) (122)
- A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy. (1991) (121)
- Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy (2016) (121)
- From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1. (2019) (118)
- Nonsystemic vasculitic neuropathy (2003) (118)
- Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy (2018) (117)
- Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps (2003) (116)
- Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery. (2014) (115)
- Toxic Polyneuropathy Produced by Methyl N-Butyl Ketone (1974) (115)
- Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. (1995) (114)
- Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. (2001) (111)
- Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy. (2019) (108)
- Studies on the pathogenesis of vincristine‐induced neuropathy (1987) (106)
- Gene therapy for muscular dystrophy: Lessons learned and path forward (2012) (106)
- Pilot trial of etanercept in the treatment of inclusion-body myositis (2006) (105)
- Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity? (1997) (105)
- Positive neuropathic sensory symptoms as endpoints in diabetic neuropathy trials (2001) (104)
- Mononuclear cell analysis of muscle biopsies in prednisone‐treated and untreated Duchenne muscular dystrophy (1991) (104)
- Emerging drugs for Duchenne muscular dystrophy (2012) (101)
- Kennedy's disease (1993) (100)
- Myoclonic epilepsy and ragged‐red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics (1989) (100)
- Polyneuropathy from inhalation of N2O cartridges through a whippedcream dispenser (1978) (100)
- Azathioprine toxicity in neuromuscular disease (1986) (98)
- Peripheral nerve vasculitis: Immune characterization of the vascular lesions (1989) (98)
- AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort. (2019) (97)
- Eteplirsen treatment for Duchenne muscular dystrophy (2018) (97)
- Nonsense mutation‐associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene (2011) (97)
- RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. (2012) (96)
- Inclusion body myositis (1995) (95)
- Persistent Expression of FLAG-tagged Micro dystrophin in Nonhuman Primates Following Intramuscular and Vascular Delivery (2009) (95)
- A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy (2007) (95)
- Effects of PMP22 duplication and deletions on the axonal cytoskeleton (1999) (94)
- Polyneuropathy complicating bone marrow and solid organ transplantation (1993) (93)
- CNTF potentiates peripheral nerve regeneration (1994) (93)
- Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. (1996) (92)
- Genotype-phenotype correlations of DHP receptor α 1-subunit gene mutations causing hypokalemic periodic paralysis (1997) (91)
- A randomized efficacy and safety trial of oxandrolone in the treatment of Duchenne dystrophy (2001) (90)
- Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect. (2013) (89)
- Dystrophin expression and somatic reversion in prednisone‐treated and untreated Duchenne dystrophy (1991) (88)
- A placebo-controlled trial of gabapentin in spinal muscular atrophy (2001) (86)
- Dexmedetomidine and ketamine sedation for muscle biopsies in patients with Duchenne muscular dystrophy (2014) (86)
- Double‐blind study of the effects of dexamethasone on acute stroke (1972) (84)
- Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes. (2017) (83)
- Overexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice. (2009) (83)
- A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients (1995) (83)
- Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors. (2000) (82)
- Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network (2013) (82)
- Neuropathies associated with monoclonal gammopathies (1996) (78)
- Utility of cystatin C to monitor renal function in duchenne muscular dystrophy (2009) (78)
- Pilot trial of albuterol in facioscapulohumeral muscular dystrophy (1998) (78)
- A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient (1993) (78)
- Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy (2010) (77)
- A Pilot Trial of Prednisone in Facioscapulohumeral Muscular Dystrophy (1997) (77)
- Diagnosis and Management of Peripheral Nerve Disorders (2001) (77)
- AAV1.NT-3 Gene Therapy for Charcot–Marie–Tooth Neuropathy (2013) (76)
- Novel diagnostic features of dysferlinopathies (2010) (76)
- Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy (2021) (73)
- Spectrum of small mutations in the dystrophin coding region. (1995) (72)
- The Congenital Muscular Dystrophies: Recent Advances and Molecular Insights (2006) (72)
- Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice (2017) (71)
- Double-blind study of the effects of dexamethasone on acute stroke. (1971) (71)
- An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy (2009) (70)
- Alterations of fast axoplasmic transport in experimental methyl n-butyl ketone neuropathy (1977) (70)
- Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores (2012) (70)
- The fine structure of type II muscle fiber atrophy (1971) (69)
- Clinical manifestations of mitochondrial DNA depletion. (1998) (68)
- A Randomized, Double-Blind Trial of Lisinopril and Losartan for the Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy (2013) (68)
- Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials (2018) (66)
- Novel LMNA mutations in patients with Emery‐Dreifuss muscular dystrophy and functional characterization of four LMNA mutations (2011) (66)
- Adult acid maltase deficiency (1993) (66)
- Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes (2020) (65)
- Clinical investigation of Duchenne muscular dystrophy. A methodology for therapeutic trials based on natural history controls. (1987) (65)
- AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models (2015) (65)
- Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer (2012) (65)
- Immunosuppressive treatment of motor neuron syndromes. Attempts to distinguish a treatable disorder. (1994) (64)
- Neurotonia: Impulse‐induced repetitive discharges in motor nerves in peripheral neuropathy (1980) (61)
- Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events (1993) (60)
- Definitive molecular diagnosis of facioscapulohumeral dystrophy (1999) (60)
- Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin α2 surrogates. (2014) (59)
- The spontaneously diabetic BB Wistar rat Morphologic and physiologic studies of peripheral nerve (1981) (59)
- Mononuclear cell analysis of muscle biopsies in prednisone‐ and azathioprine‐treated Duchenne muscular dystrophy (1993) (59)
- Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy (2019) (59)
- Update on the Treatment of Duchenne Muscular Dystrophy (2013) (58)
- Axoplasmic transport in zinc pyridinethione neuropathy: Evidence for an abnormality in distal turn-around (1980) (58)
- Significance of creatine phosphokinase isoenzymes in Duchenne dystrophy (1976) (58)
- Infantile encephalopathy associated with the MELAS A3243G mutation. (1999) (57)
- Peptide-Based Inhibition of NF-κB Rescues Diaphragm Muscle Contractile Dysfunction in a Murine Model of Duchenne Muscular Dystrophy (2011) (55)
- Gene therapy for duchenne muscular dystrophy: expectations and challenges. (2007) (55)
- Duchenne muscular dystrophy: CRISPR/Cas9 treatment (2016) (55)
- Plasma exchange and prednisone in Guillain‐Barré syndrome (1985) (55)
- Serotonin and platelet function in Duchenne muscular dystrophy. (1973) (54)
- Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies (1990) (54)
- The dropped head syndrome with chronic inflammatory demyelinating polyneuropathy (1994) (54)
- Expression of γ-Sarcoglycan in Smooth Muscle and Its Interaction with the Smooth Muscle Sarcoglycan-Sarcospan Complex* (2000) (54)
- Outcome reliability in non‐Ambulatory Boys/Men with duchenne muscular dystrophy (2015) (54)
- The experimental production of renaut bodies (1983) (54)
- The Childhood Muscular Dystrophies: Diseases Sharing a Common Pathogenesis of Membrane Instability (1995) (53)
- Micro-dystrophin and follistatin co-delivery restores muscle function in aged DMD model. (2013) (53)
- Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide (2005) (51)
- Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I (2011) (51)
- Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D (2008) (51)
- Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy (2019) (50)
- Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease (2008) (48)
- Long-Term Pulmonary Function in Duchenne Muscular Dystrophy: Comparison of Eteplirsen-Treated Patients to Natural History (2017) (48)
- Immunocytochemical localization studies of myelin basic protein (1978) (47)
- Specificity of human IgM monoclonal antibodies from patients with peripheral neuropathy (1986) (47)
- Respiratory dysfunction in muscular dystrophy and other myopathies. (1994) (46)
- Charcot-Marie-Tooth neuropathies and related disorders. (1998) (46)
- Treatment of painful sensory neuropathy with tiagabine: A pilot study (2001) (46)
- Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. (1992) (45)
- Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. (1998) (45)
- DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy (2009) (44)
- Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. (1997) (43)
- Gene therapy for muscular dystrophy: moving the field forward. (2014) (42)
- ULTRASTRUCTURAL STUDY OF ZINC PYRIDINETHIONE‐INDUCED PERIPHERAL NEUROPATHY (1979) (42)
- The skeletal muscle binding site of antistriated muscle antibody in myasthenia gravis: an electron microscopic immunohistochemical study using peroxidase conjugated antibody fragments. (1973) (42)
- Clinical investigation in Duchenne muscular dystrophy: Penicillamine and vitamin E (1988) (41)
- Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy (1993) (41)
- Three‐tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD) (2004) (41)
- Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. (2017) (41)
- Clinical investigation in duchenne dystrophy. VI. Double‐blind controlled trial of nifedipine (1987) (41)
- Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. (2013) (40)
- The Clinical Outcome Study for dysferlinopathy (2016) (40)
- AAV-mediated overexpression of human α7 integrin leads to histological and functional improvement in dystrophic mice. (2013) (40)
- Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. (1993) (40)
- ULTRASTRUCTURAL DEVELOPMENT OF EXPLANTED HUMAN SKELETAL MUSCLE IN TISSUE CULTURE (1972) (39)
- Acute inflammatory polyradiculoneuropathy following Hymenoptera stings. (1982) (39)
- Clinical development on the frontier: gene therapy for duchenne muscular dystrophy (2020) (38)
- Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45 (2015) (38)
- Clinical investigation in duchenne muscular dystrophy: IV. Double. Blind controlled trial of leucine (1984) (37)
- Hyaline body myopathy (1994) (36)
- Dystrophin expression in a Duchenne muscular dystrophy Patient with a frame shift deletion (1997) (35)
- Challenges in drug development for muscle disease: A stakeholders' meeting (2007) (34)
- Fate of Schwann Cells in CMT1A and HNPP: Evidence for Apoptosis (1998) (34)
- Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy (2021) (34)
- Chronic nephrotoxicity complicating cyclosporine treatment of chronic inflammatory demyelinating polyradiculoneuropathy (1987) (34)
- Chronic inflammatory demyelinating polyradiculoneuropathy. (1993) (34)
- Phenytoin neuropathy: Structural changes in the sural nerve (1986) (34)
- Lack of benefit of allopurinol in duchenne dystrophy (1979) (33)
- Autistic Disorder in 2 Children With Mitochondrial Disorders (2007) (33)
- One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. (2014) (33)
- Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides. (1990) (33)
- Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial (2022) (32)
- Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial (2022) (32)
- Randomized, double‐blind trial of mazindol in Duchenne dystrophy (1990) (32)
- Evaluation and Treatment of Myopathies (1995) (32)
- Proof of Concept of the Ability of the Kinect to Quantify Upper Extremity Function in Dystrophinopathy (2013) (31)
- Spinal angiography and epidural venography in juvenile muscular atrophy of the distal arm “Hirayama disease” (2009) (31)
- Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies (2014) (31)
- Clinical investigation in Duchenne Dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection (1985) (30)
- Genetics of facioscapulohumeral muscular dystrophy (1993) (30)
- Follistatin Gene Therapy Improves Ambulation in Becker Muscular Dystrophy (2015) (30)
- Treatment approaches for Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy. (2001) (30)
- Clinical trial readiness in non‐ambulatory boys and men with duchenne muscular dystrophy: MDA–DMD network follow‐up (2016) (30)
- Amyotrophic lateral sclerosis. A study of central monoamine metabolism and therapeutic trial of levodopa. (1971) (29)
- Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial (2021) (29)
- High Mitochondrial DNA T8993G Mutation (>90%) Without Typical Features of Leigh's and NARP Syndromes (2001) (29)
- Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot (2011) (28)
- Immunocytochemical studies of cathepsin D in human skeletal muscle (1983) (28)
- The immunopathogenic role of complement in human muscle disease (1996) (28)
- Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection. (1994) (27)
- Amyloidosis causing a progressive myopathy (1995) (27)
- Evoked potentials in chronic inflammatory demyelinating polyneuropathy. (1988) (27)
- Gene delivery to spinal motor neurons (1993) (27)
- Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. (1992) (26)
- The natural history of Duchenne muscular dystrophy: a caveat for therapeutic trials. (1981) (26)
- The childhood muscular dystrophies: making order out of chaos. (1999) (26)
- AAV-mediated gene therapy to the isolated limb in rhesus macaques. (2011) (26)
- Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion. (2019) (26)
- Knee extensor strength exhibits potential to predict function in sporadic inclusion‐body myositis (2012) (25)
- Twice‐weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy (2019) (25)
- Linkage mapping of the spinal muscular atrophy gene (1994) (25)
- Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue (2021) (25)
- Physiologic assessment of phosphoglycerate mutase deficiency (1985) (24)
- Casein kinase 1 alpha associates with the tau-bearing lesions of inclusion body myositis (2008) (24)
- Acute paralytic syndrome in three American men. Comparison with Chinese cases. (1993) (24)
- Study of mitochondrial DNA depletion in muscle by single‐fiber polymerase chain reaction (1998) (23)
- Recent advances in Duchenne and Becker muscular dystrophy. (1988) (23)
- NEURONAL INTRACYTOPLASMIC HYALINE INCLUSIONS (1971) (23)
- The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development (2015) (23)
- Molecular Therapeutic Strategies Targeting Duchenne Muscular Dystrophy (2010) (22)
- Catecholamines and indoleamines in patients with Duchenne muscular dystrophy. (1972) (22)
- Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. (2010) (22)
- Mitochondrial myopathy in the elderly: Exaggerated aging in the pathogenesis of disease (1995) (22)
- Use of serum creatine kinase, pyruvate kinase, and genetic linkage for carrier detection in Duchenne and Becker dystrophy (1987) (22)
- Three new mutations in patients with myophosphorylase deficiency (McArdle disease). (1994) (21)
- Congenital Muscular Dystrophy With Complete Laminin-α2-Deficiency, Cortical Dysplasia, and Cerebral White-Matter Changes in Children (1998) (21)
- MicroRNA-29 overexpression by adeno-associated virus suppresses fibrosis and restores muscle function in combination with micro-dystrophin. (2017) (21)
- The 2-min walk test is sufficient for evaluating walking abilities in sporadic inclusion body myositis (2014) (21)
- 480. Gene Therapy for Spinal Muscular Atrophy Type 1 Shows Potential to Improve Survival and Motor Functional Outcomes (2016) (20)
- Impaired regeneration in LGMD2A supported by increased PAX7‐positive satellite cell content and muscle‐specific microrna dysregulation (2013) (20)
- Fidelity of Gamma-Glutamyl Transferase (GGT) in Differentiating Skeletal Muscle From Liver Damage (2008) (20)
- Centronuclear myopathy and type-1 hypotrophy without central nuclei. Distinct nosologic entities? (1990) (19)
- Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study (2018) (19)
- Clinical Follow‐Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal (2016) (19)
- Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy (2019) (19)
- Cardiac management in neuromuscular diseases. (2012) (18)
- Changes in Sciatic Nerve Cathepsin D After Ligation or Exposure to Neurotoxins (1983) (18)
- Cyclosporine nephrotoxicity without major organ transplantation. (1987) (18)
- Analysis of fast axoplasmic transport in nerve ligation and adriamycin-induced neuronal perikaryon lesions (1979) (18)
- Exon 44 nonsense mutation in two‐duchenne muscular dystrophy brothers detected by heteroduplex analysis (1993) (18)
- Lambert-Eaton Myasthenic Syndrome in Children (2002) (18)
- Imipramine‐serotonin induced myopathy (1976) (17)
- Comparison of the effects of continuous subcutaneous infusion and split-mixed injection of insulin on nerve function in type I diabetes mellitus (1987) (17)
- Human α7 Integrin Gene (ITGA7) Delivered by Adeno-Associated Virus Extends Survival of Severely Affected Dystrophin/Utrophin-Deficient Mice. (2015) (17)
- Corticosteroid-responsive skeletal muscle disease associated with partial carnitine deficiency: studies of liver and metabolic alterations. (1977) (17)
- A molecular protocol for diagnosing myotonic dystrophy. (1995) (17)
- Congenital muscular dystrophy (2001) (16)
- Mitochondrial DNA Depletion in Children (2000) (16)
- Clinical trials of exon skipping in Duchenne muscular dystrophy (2017) (16)
- THE FINE STRUCTURAL DIFFERENCES IN HUMAN MUSCLE FIBER TYPES BASED ON PEROXIDATIC ACTIVITY (1974) (16)
- The Muscular Dystrophies: Distinct Pathogenic Mechanisms Invite Novel Therapeutic Approaches (2011) (16)
- Characterization of a murine model for human bismuth encephalopathy. (1988) (16)
- Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec (2021) (16)
- Muscular dystrophy: historical overview and classification in the genetic era. (1999) (16)
- Correlation of knee strength to functional outcomes in becker muscular dystrophy (2013) (16)
- Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy (2017) (15)
- Diagnosis of Maryland/German familial amyloidotic polyneuropathy using allele‐specific, enzymatically amplified, genomic DNA (1990) (15)
- PERIPHERAL NERVE CHANGES INDUCED BY LOCAL APPLICATION OF BEE VENOM (1977) (15)
- Myasthenia Gravis and Associated Autoimmune Diseases in Children (2000) (14)
- Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update (1828) (2020) (14)
- RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice (2014) (14)
- Open-biopsy electromyography. Direct correlation of a pattern of excessively recruited, pathologically small motor unit potentials with histologic evidence of neuropathy. (1979) (14)
- A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy (2017) (13)
- Dose-Escalation Study of Systemically Delivered rAAVrh74.MHCK7.micro-dystrophin in the mdx Mouse Model of Duchenne Muscular Dystrophy (2021) (13)
- Critical Illness Polyneuropathy in a 2-Year-Old Girl With Hemorrhagic Shock Encephalopathy Syndrome (1995) (13)
- Spinal Muscular Atrophy. (2021) (13)
- Perspectives on best practices for gene therapy programs. (2015) (13)
- A novel splice site mutation in a Becker muscular dystrophy patient. (1996) (13)
- Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls (2021) (13)
- Immunological identification of a high molecular weight protein as a candidate for the product of the Duchenne muscular dystrophy gene. (1988) (12)
- Reliability and validity of active‐seated: An outcome in dystrophinopathy (2015) (12)
- Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases (2013) (12)
- Modeling functional decline over time in sporadic inclusion body myositis (2017) (12)
- Charting a clear path: the ASGCT Standardized Pathways Conference. (2014) (12)
- Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale (2021) (12)
- Assessment of disease progression in dysferlinopathy (2019) (12)
- Therapeutic Approaches for Duchenne Muscular Dystrophy: Old and New. (2021) (12)
- The 100-meter timed test: Normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials (2017) (11)
- The limb girdle muscular dystrophies: our ever-expanding knowledge. (2003) (11)
- Studies on the morphologic alterations of axonal membraneous organelles in neurofilamentous neuropathies (1983) (11)
- Mitochondrial Respiratory-Chain Defects Presenting as Nonspecific Features in Children (2000) (11)
- Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. (2020) (11)
- Expression of Schwann cell and peripheral T-cell activation epitopes in hereditary motor and sensory neuropathy (1992) (11)
- Assessment of rAAVrh.74.MHCK7.micro-dystrophin Gene Therapy Using Magnetic Resonance Imaging in Children With Duchenne Muscular Dystrophy (2021) (11)
- Quality improvement in neurology residency programs (1997) (11)
- Immunocytochemical evidence for the retrograde transport of intraaxonal cathepsin D: possible relevance to the dying-back process (1990) (11)
- Amyotrophic lateral sclerosis: metabolism of central monoamines and treatment with L-dopa. (1971) (10)
- Caution urged in childhood thymectomy for myasthenia gravis (1977) (10)
- VIP-expressing Dendritic Cells Protect Against Spontaneous Autoimmune Peripheral Polyneuropathy. (2014) (10)
- Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization (2010) (10)
- Anti-Dystrophin T Cell Responses in Duchenne Muscular Dystrophy: Prevalence and a Glucocorticoid Treatment Effect (2013) (10)
- Genetic heterogeneity in Duchenne Dystrophy (1987) (10)
- “The Certified Duchenne Care Center Program” (2016) (9)
- Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing. (2020) (9)
- Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy in Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update (2384) (2020) (9)
- Assessment of disease progression in dysferlinopathy A 1-year cohort study (9)
- Challenges for gene therapy for muscular dystrophy (2006) (9)
- Unmet needs and evolving treatment for limb girdle muscular dystrophies. (2021) (9)
- AAV1.NT-3 gene therapy for X-linked Charcot–Marie–Tooth neuropathy type 1 (2021) (9)
- Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16. (1994) (9)
- Vasculitic neuropathy. (1992) (8)
- Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease (2021) (8)
- Chemical and morphological studies on garfish peripheral nerves (1981) (8)
- A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment (2021) (8)
- Eteplirsen improves function and partially restores dystrophin (2016) (8)
- Carrier assessment for mothers and sisters of isolated Duchenne dystrophy cases (1987) (8)
- Visual diagnosis: chest pain in a boy with duchenne muscular dystrophy and cardiomyopathy. (2014) (7)
- Nonsense mutations in a Becker muscular dystrophy and an intermediate patient (1996) (7)
- A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics (2015) (7)
- Testing preexisting antibodies prior to AAV gene transfer therapy: rationale, lessons and future considerations (2022) (7)
- Meeting of the Cell Transplantation Society in Miami. (1997) (7)
- An outbreak of a previously undescribed toxic polyneuropathy due to industrial solvent. (1974) (7)
- Combined Partial Deficiencies of Carnitine Palmitoyltransferase II and Mitochondrial Complex I Presenting as Increased Serum Creatine Kinase Level (2002) (6)
- Systemic delivery of AAVrh74.tMCK.hCAPN3 rescues the phenotype in a mouse model for LGMD2A/R1 (2021) (6)
- Partial Epilepsy in an Adolescent Male With Limb-Girdle Muscular Dystrophy 1B (2009) (6)
- AVXS-101 Phase 1 Gene Therapy Clinical Trial in SMA Type 1: Event Free Survival and Achievement of developmental milestones (CT.003) (2017) (6)
- Immunosuppressive therapy in Duchenne muscular dystrophy: considerations for myoblast transfer studies. (1990) (6)
- Dermatomyositis in Two Siblings and a Brief Review of Familial Dermatomyositis (2002) (6)
- Postoperative pericarditis following thymectomy for myasthenia gravis. A prospective study. (1983) (6)
- AVXS-101 Phase 1 Gene Replacement Therapy Clinical Trial in SMA Type 1: Continued Event Free Survival and Achievement of Developmental Milestones (S29.001) (2018) (6)
- T.P.1 Pilot study evaluating motivation on the performance of timed walking in boys with Duchenne muscular dystrophy (2014) (5)
- Peripheral neuropathy due to vasculitis: immunopathogenesis, clinical features and treatment (1994) (5)
- Procainamide-induced chronic inflammatory demyelinating polyradiculoneuropathy (1998) (5)
- Precordial R wave height does not correlate with echocardiographic findings in boys with Duchenne muscular dystrophy. (2013) (5)
- Case of the month: Germline mosaicism in carriers of duchenne muscular dystrophy (1992) (5)
- IP 853. AVXS-101 Phase-1-Gene Therapy Clinical Trial in SMA Type 1: Event-Free Survival and Achievement of Developmental Milestones (2018) (5)
- Quality improvement in neurology residency programs (1998) (5)
- Inclusion body myositis (1992) (4)
- One-Time Intrathecal (IT) Administration of AVXS-101 IT Gene-Replacement Therapy for Spinal Muscular Atrophy: Phase 1 Study (STRONG) (2493) (2020) (4)
- AVXS-101 Phase 1 Gene Therapy Clinical Trial in SMA Type 1: Experience with pre-existing anti-AAV9 antibody in the SMA1 population (S13.001) (2017) (4)
- Novel compound heterozygous laminina2‐chain gene (LAMA2) mutations in congenital muscular dystrophy (1998) (4)
- Scapuloperoneal neuropathy: A distinct clinicopathologic entity (1988) (4)
- Phase 1 Study of Intrathecal Administration of AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 2 (SMA2) (STRONG) (P1.6-059) (2019) (4)
- Alterations in Nodes of Ranvier and Schmidt‐Lanterman Incisures in Charcot‐Marie‐Tooth Neuropathies (1999) (4)
- Failure of a Serotonin Inhibitor to Effect Nocturnal GH and Prolactin Secretion in Patients with Duchenne Muscular Dystrophy (1976) (4)
- Duchenne muscular dystrophy: ethical and emotional considerations in long-term management. (1984) (4)
- The impact of molecular genetics on the care of patients with muscle disease (1994) (4)
- Health-Related Quality of Life and Emotional Distress Among Mothers of Sons With Muscular Dystrophy as Compared to Sex- and Age Group–Matched Controls (2020) (4)
- Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2 B and 2 I (2011) (3)
- 066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update (2019) (3)
- VIP-expressing dendritic cells protect against spontaneous autoimmune peripheral polyneuropathy. (2014) (3)
- Framework multipoint map of the long arm of human Chromosome 4 and telomeric localization of the gene for FSHD (2004) (3)
- Gene transfer for neurologic disease (2004) (3)
- Sustained alpha-sarcoglycan gene expression following gene transfer in LGMD 2 D (2011) (3)
- The skeletal muscle binding site of anti striated muscle antibody an ultrastructural study using peroxidase conjugated antibody (1973) (3)
- Could gene therapy be the future for muscular dystrophy? (2010) (3)
- Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. (2019) (3)
- Development of a validated Western blot method for quantification of human dystrophin protein used in Phase II and III clinical trials of eteplirsen for the treatment of Duchenne muscular dystrophy (DMD) (P5.105) (2017) (3)
- Method of re-embedding tissue for electron microscopy. (1974) (3)
- AVXS-101 Phase 1 Gene Therapy Clinical Trial in SMA Type 1: Correlation between CHOP-INTEND and Motor Milestone achievements (S13.002) (2017) (3)
- Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics (2022) (3)
- Hypotonia, weakness, and pontocerebellar hypoplasia in siblings. (2008) (3)
- Alterations in nodes of Ranvier and Schmidt-Lanterman incisures in Charcot-Marie-Tooth neuropathies. (1999) (3)
- Reply (2017) (3)
- Monday, 27 August 2012 (2012) (3)
- The Effects of Transcutaneous Muscle Stimulation and Testosterone on Strength and Muscle Mass in Myotonic Dystrophy (1987) (3)
- 250 AVXS-101 phase 3 study in spinal muscular atrophy type 1 (2019) (3)
- Immunocytochemical studies of cathepsin D in human skeletal muscle. (1981) (3)
- Reply to Letter to the Editor. (2017) (3)
- PP09.16 – 2691: Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO) for the treatment of Duchenne muscular dystrophy (DMD): 3.2 year update on six-minute walk test (6MWT), pulmonary function testing (PFT), and safety (2015) (2)
- 379. MicroRNA-29 and Micro-Dystrophin Combinatorial Therapy Suppresses Fibrosis and Restores Function to mdx/utrn+/− Mice (2016) (2)
- Response to Letter by Yilmaz et al Regarding Article, “Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy” (2010) (2)
- Intracellular Processing and Toxicity of the Truncated Androgen Receptor: Nuclear Congophilia‐Associated Cell Death (2000) (2)
- Revertant muscle fibers expressing dystrophin do not tolerize the immune system in Duchenne muscular dystrophy: lessons learned from a Phase I clinical trial (96.9) (2010) (2)
- Quantification of dystrophin to assess the effects of dystrophin-restoring treatments in Duchenne muscular dystrophy: Lessons from the development of eteplirsen (2017) (2)
- Results at 96 Weeks of a Phase IIb Extension Study of the Exon-Skipping Drug Eteplirsen in Patients with Duchenne Muscular Dystrophy (DMD) (S6.002) (2014) (2)
- Motor and Cognitive Assessment of Infants and Young Boys with Duchenne Muscular Dystrophy; Results from the Muscular Dystrophy Association DMD Clinical Research Center Network (P04.084) (2012) (2)
- Overexpression of Galgt 2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice (2009) (2)
- AVXS-101 Phase 1 gene therapy clinical trial in SMA Type 1: Interim data demonstrates improvements in supportive care use (2017) (2)
- DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY (2018) (2)
- C-2. Eteplirsen, a Phosphorodiamidate Morpholino Oligomer (PMO) for the Treatment of Duchenne Muscular Dystrophy (DMD): 168 Week Update on Six-Minute Walk Test (6MWT), Pulmonary Function Testing (PFT), and Safety (2015) (2)
- Muscle Gene Therapy (2019) (2)
- Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy (2020) (2)
- D35 Development of a validated Western blot method for quantification of human dystrophin protein used in phase 2 and 3 clinical trials of eteplirsen for the treatment of Duchenne muscular dystrophy (2017) (2)
- Treatment approaches for Guillan-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy (2001) (2)
- P.218 Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO) for Duchenne muscular dystrophy (DMD): Longitudinal comparison to external controls on six-minute walk test (6MWT) and loss of ambulation (LOA) (2016) (2)
- Another approach to ventilatory failure in neuromuscular disease (2000) (2)
- Leg muscle MRI in identical twin boys with duchenne muscular dystrophy (2018) (2)
- CLINICAL TRIAL HIGHLIGHTS O.38Systemic gene transfer with rAAVrh74.MHCK7.SGCB increased β-sarcoglycan expression in patients with limb girdle muscular dystrophy type 2E (2019) (2)
- Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study (2022) (2)
- S.P.11 Development of a virtual upper extremity assessment tool for individuals with DMD across the lifespan (2012) (2)
- Translational Medicine: Evolution, Fulfillment, and Belief in Gene Therapy. (2020) (2)
- NATURAL HISTORY OF CARDIOMYOPATHY IN DUCHENNE MUSCULAR DYSTROPHY AND THE EFFECTS OF ANGIOTENSIN-CONVERTING ENZYME INHIBITOR WITH OR WITHOUT BETA-BLOCKER (2012) (2)
- MicroRNA-29 Overexpression Delivered By Adeno-Associated Virus Suppresses Fibrosis in mdx:utrn+/- Mice (S61.003) (2014) (2)
- Gene Therapy Clinical Trials for Duchenne and Limb Girdle Muscular Dystrophies: Lessons Learned (2019) (2)
- IMMUNOSUPPRESSIVE TREATMENT OF MOTOR NEURON SYNDROMES. AUTHORS' REPLY (1995) (1)
- P.217 Clinical safety of eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), in Duchenne muscular dystrophy (DMD) patients amenable to skipping exon 51 of the DMD gene (2016) (1)
- P.11.20 Results at 2years of a phase IIb extension study of the exon-skipping drug eteplirsen in patients with DMD (2013) (1)
- Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach (2022) (1)
- D.O.1 A two-tiered approach to newborn screening for Duchenne muscular dystrophy (DMD) using dried blood spots for sequential CK and DNA analysis (2012) (1)
- D.P.4 Comparison of commercially-available exome capture kits in the diagnosis of neuromuscular disorders (2012) (1)
- Therapy for Spinal Muscular Atrophy. (2018) (1)
- G.P.110 Safety and pharmacokinetic profile of eteplirsen, SRP-4045, and SRP-4053, three phosphorodiamidate morpholino oligomers (PMOs) for the treatment of patients with Duchenne muscular dystrophy (DMD) (2014) (1)
- G.P.227 Beta-Sarcoglycan gene transfer leads to functional improvement in a model of LGMD2E (2014) (1)
- P.439 Optimization and implementation of best practices for collection and preparation of muscle biopsies for analysis during clinical trials of neuromuscular disease therapeutics (2017) (1)
- Reply: To PMID 23907995. (2014) (1)
- P.14.17 Evaluation of the ability of timed walking tests to quantify function in sporadic inclusion body myositis (2013) (1)
- P.216 Long-term treatment with eteplirsen promotes exon 51 skipping and novel dystrophin protein production in Duchenne muscular dystrophy patients (2016) (1)
- Path to Clinical Trials: Trial Design, Development of the Clinical Product, and Safety Concerns in the Implementation of Clinical Trials (2019) (1)
- Water T2 could predict functional decline in patients with dysferlinopathy (2022) (1)
- AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones (2019) (1)
- Corrigendum: Characterization of translational frame exeption patients in Duchenne/Becker muscular dystrophy (Human Molecular Genetics (1993) 2 (737-744)) (1993) (1)
- G.O.26 Human α7 integrin gene (ITGA7) delivered by adeno-associated virus reverses the phenotype of the double knock out (DKO) mouse devoid of dystrophin and utrophin (2014) (1)
- Michael H. Brooke, MB, BCh (1934–2018) (2018) (1)
- P.192The 100 meter timed test: responsiveness to change, predicting loss of ambulation, and data-driven phenotypes (2019) (1)
- DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.306Utility of the Bayley-III, North Star Ambulatory Assessment, and 100 meter timed test in quantifying gross motor delay in very young boys with Duchenne muscular dystrophy (2018) (1)
- β-Sarcoglycan Gene Transfer Leads to Functional Improvement in a Model of LGMD2E (S61.002) (2014) (1)
- Natural History of Cardiomyopathy in Duchenne Muscular Dystrophy and the Effects of Angiotensin-Converting Enzyme Inhibitor with or without -Blocker (S15.003) (2012) (1)
- Duchenne muscular dystrophy: early motor signs, symptoms, and steps for early diagnosis and treatment (2018) (1)
- Abstracts (2005) (1)
- Plasmapheresis Enables Robust Micro-Dystrophin Expression Following Gene Transfer in Subjects with Pre-Existing Immunity (P3.016) (2014) (1)
- SMA THERAPIES I P.179AVXS-101 trial experience: CHOP-INTEND effectively quantifies early, rapid, and sustained improvements that precede subsequent milestone achievement but is not sensitive to continued advances in motor function in infants with SMA type 1 (2018) (1)
- P.6.2 Development of a proof-of-concept device using the Microsoft Kinect to assess movement in infants with spinal muscular atrophy (2013) (1)
- G.P.112 Pulmonary function is stable through week 120 in patients with Duchenne muscular dystrophy (DMD) treated with exon-skipping drug eteplirsen in phase 2b study (2014) (1)
- P.174Establishing divergent phenotypes in limb girdle muscular dystrophies (2019) (1)
- Risks, benefits, and consent in the age of gene therapy (2006) (1)
- G.P.258 Eteplirsen, a Phosphorodiamidate morpholino oligomer (PMO) for the treatment of Duchenne muscular dystrophy (DMD): Clinical update (2015) (1)
- Association between Ag I -CA Alleles and Severity of Autosomal Recessive Proximal Spinal Muscular Atrophy (2007) (1)
- DUCHENNE AND BECKER MUSCULAR DYSTROPHY CARRIERS: EVIDENCE OF CARDIOMYOPATHY BY EXERCISE AND CARDIAC MAGNETIC RESONANCE IMAGING (2019) (1)
- Duchenne Muscular Dystrophy Exon-Skipping Trials (2019) (1)
- Breakthrough to Bedside: Bringing Gene Therapy to Neuromuscular Diseases. (2019) (1)
- P.214Presymptomatic spinal muscular atrophy: reality or myth? (2019) (1)
- Moderate Walking Distances and Velocity Correlate with Function Comparable to 6 Minute Walk Test (S49.005) (2012) (1)
- NEUROPATHOLOGY OF MICE WITH BISMUTH NEUROTOXICITY (1986) (0)
- Recent advances in diagnosis and classification of Charcot-Marie-Tooth disease (1993) (0)
- Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). (2023) (0)
- 597. AAV. NT-3 Treatment Attenuates Spontaneous Autoimmune Peripheral Polyneuropathy (2015) (0)
- G.P.188 Comparison of ACTIVE-mini to the Vicon motion camera system in measuring infant movements (2015) (0)
- Gene Therapy Clinical Trials for Muscular Dystrophy (2015) (0)
- AVXS-101 Phase 1 Gene Replacement Therapy Clinical Trial in SMA Type 1: Patients Treated Early with the Proposed Therapeutic Dose Were Able to Sit Unassisted at a Younger Age (S29.002) (2018) (0)
- G.P.289 Novel ANO5 KO mouse provides new insight into LGMD2L pathogenesis (2014) (0)
- Morphologic evidence for distortion of axonal smooth endoplasmic reticulum in 2 5 hexanedione induced peripheral neuropathy (1981) (0)
- P.464 The 100-meter timed test: ability to detect change over time in Duchenne muscular dystrophy (2017) (0)
- Founder Mutation In The γ-Sarcoglycan Gene Causes Milder Phenotype Of Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C) in the Hispanic Population of Puerto Rico (S46.002) (2014) (0)
- EP.89Clinical trials in young boys and infants with DMD: how do you handle maturation? (2019) (0)
- 13 ALTERATIONS OF AXONAL CYTOSKELETON DURING FAST AXOPLASMIC TRANSPORT IMPAIRMENT (1983) (0)
- LIMB GIRDLE MUSCULAR DYSTROPHIES P.143 Measuring motor function in LGMD2E: Determining which functional outcomes are the most responsive to change in a 1-year study (2020) (0)
- Gene Transfer for Neurological Disease: Agencies, Policies, and Process**This work was supported in part by funding from National Institutes of Health, National Institute of Arthritis, Musculoskeletal, and Skin Diseases RFA: AR-03-001 (2006) (0)
- Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). (2023) (0)
- Kennedy's disease (1993) (0)
- P07 Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy (SMA): from bench to bedside (2020) (0)
- Reply (2014) (0)
- P.53 Effects of long-term treatment with eteplirsen on cardiac function (2017) (0)
- Author response: Michael H. Brooke, MB, BCh (1934–2018) (2019) (0)
- P.14.16 Longitudinal changes in strength and functional outcomes in sporadic inclusion body myositis (2013) (0)
- Chest Pain in a Boy With Duchenne Muscular Dystrophy and Cardiomyopathy (Visual Diagnosis) (2016) (0)
- P.219 Respiratory function in eteplirsen-treated Duchenne muscular dystrophy (DMD) patients compared to natural history (2016) (0)
- Impaired Muscle Regeneration in CAPN3-KO Mice Related to microRNA Dysregulation (S61.006) (2014) (0)
- Human α7 Integrin Gene (ITGΑ7) Delivered By Adeno-Associated Virus Reverses The Phenotype Of The Double Knock Out (DKO) Mouse Devoid Of Dystrophin And Utrophin (P5.099) (2014) (0)
- Overexpression of Human Alpha7 Integrin as a Potential Therapy for Duchenne Muscular Dystrophy (PD6.004) (2012) (0)
- Into Mechanisms Causing Neuronal Dysfunction and Death. It Diagnosis and Management of Peripheral Nerve Disorders Edited (0)
- 506. β-Sarcoglycan Gene Transfer Prevents Muscle Fibrosis and Inflammation in an Aged LGMD2E Mouse Model (2015) (0)
- 816 USE OF GENETIC LINKAGE COMBINED WITH SERUM CREATINE KINASE AND PYRUVATE KINASE FOR CARRIER DETECTION IN DUCHENNE DYSTROPHY (1985) (0)
- AAV Gene Transfer Utilizing Homologous Overlap Vectors Mediates Functional Recovery of Dysferlin Deficiency (S61.004) (2014) (0)
- Safety Profile and Pharmacokinetic Properties of Eteplirsen in the Treatment of Boys with Duchenne Muscular Dystrophy (S6.001) (2014) (0)
- A Molecular Protocolfor DiagnosingMyotonic Dystrophy (1995) (0)
- Mutation and Polymorphism Report (1998) (0)
- 2010 Publications - The Biopathology Center (2010) (0)
- Principles and Practice of Molecular Therapies (2015) (0)
- Books Received (2001) (0)
- Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores (2012) (0)
- 914. Recombinant AAV Gene Delivery of Follistatin for Muscle Enhancement in Models of Muscular Dystrophy (2006) (0)
- P.239 Development of a validated western blot method for quantification of human dystrophin protein (2016) (0)
- P314: Long-term safety and sustained functional benefit in patients with DMD 4 years post-treatment with delandistrogene moxeparvovec: A phase 1/2a study* (2023) (0)
- Visual Diagnosis: Chest Pain in a Boy With Duchenne Muscular Dystrophy and Cardiomyopathy (2014) (0)
- G.O.9 AAV gene transfer utilizing homologous overlap vectors mediates functional recovery of dysferlin deficiency (2014) (0)
- Functional Outcome Measures Correlated with Strength in Becker Muscular Dystrophy (P02.001) (2012) (0)
- G.P.148 Validity of ACTIVE for use across ambulatory abilities in Duchenne muscular dystrophy (2015) (0)
- DMD BRAIN P.278Differences in physical health-related quality of life and cognitive performance between muscular dystrophy carriers and non-carriers (2019) (0)
- Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern (2023) (0)
- ANABOLIC STEROIDS AND MUSCULAR DYSTROPHY. AUTHOR'S REPLY (1992) (0)
- DMD CLINICAL P.258Predictors of cardiac fibrosis in Duchenne and Becker muscular dystrophy carriers (2019) (0)
- Determinationof Nifedipinein Serum or Plasmaby Reversed-PhaseLiquid Chromatography PhillipR. Bachandthe ClinicalInvestigation of DuchenneDystrophyGroup1 (1983) (0)
- 150 INTRAAXONAL CATHEPSIN D ACTIVITY ASSOCIATED WITH RETROGRADELY MOVING ORGANELLES (1984) (0)
- Correction of Membrane Repair Defects in Dysferlin Deficient Muscle Following AAV5 Gene Transfer (S55.006) (2012) (0)
- Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy (2021) (0)
- TREATMENT APPROACHES FOR AND CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY GUILLAIN-BARRE SYNDROME (2001) (0)
- 46. Molecular Characterization of The Myopathic Form of Mitochondrial DNA Depletion Syndrome (2009) (0)
- G.O.16 Reliability and validity of the ACTIVE-mini (Ability Captured Through Interactive Video Evaluation-mini) to quantify infant movement (2014) (0)
- 609. Systemic Delivery of Dysferlin Overlap Vectors Mediates Functional Recovery of Dysferlin Deficiency (2015) (0)
- D34 Long-term treatment with the phosphorodiamidate morpholino oligomer eteplirsen in patients with Duchenne muscular dystrophy amenable to exon 51 skipping: analysis of dystrophin production (2017) (0)
- Expression of microRNAs in the Histopathological Stages of LGMD2A (Calpainopathy) (P04.081) (2012) (0)
- Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1: Pulmonary and Ventilatory Findings from the Pivotal Phase 3 US Study (STR1VE) (2020) (0)
- T.I.1 Potential for gene therapy in DMD (2011) (0)
- Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec (2022) (0)
- INCLUSION BODY MYOSITIS. REPLY (1992) (0)
- Steroids and muscular dystrophy (1991) (0)
- G.P.8.02 Humanizing mouse glycosylation to build a better mdx model for DMD (2008) (0)
- P.7.16 One year outcome assessment of young boys with DMD using the Bayley-III Scales of Infant and Toddler Development (2013) (0)
- Treatment Of Experimental CIDP Using Lentivirus Transduced Dendritic Cells Expressing VIP (I6-2.005) (2014) (0)
- Novel single base polymorphisms and rare sequence variants in the laminin α2‐chain coding region detected by RNA/SSCP analysis (1999) (0)
- Video Game Based Upper Extremity Assessment Tool for Individuals with Neuromuscular Disease (P07.039) (2013) (0)
- 622. Systemic β-Sarcoglycan Gene Therapy for Treatment of Cardiac and Skeletal Muscle Deficits in LGMD2E (2016) (0)
- Erratum: Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis (Mutation and Polymorphism Reports (1998) (38)) (1999) (0)
- Inhibition of myostatin for enhancing muscle and / or improving muscle function (2007) (0)
- An evaluation of onasemnogene abeparvovec for spinal muscular atrophy (SMN1) (2021) (0)
- G.O.25 Follistatin Gene Therapy for Becker Muscular Dystrophy (2014) (0)
- Baseline Performance on 6MWT Correlates with Other Functional Outcomes in a Phase IIb Study of Exon-Skipping Antisense Oligonucleotide Eteplirsen for Use in Duchenne Muscular Dystrophy (DMD) (P5.091) (2014) (0)
- Validity and Reliability of the Neuromuscular Gross Motor Outcome. (2021) (0)
- Fatal group a streptococcal necrotizing myopathy. (2002) (0)
- G.P.167 Clinical trial readiness for non-ambulatory boys and men with Duchenne muscular dystrophy: 12 and 24 month follow-up from the MDA–DMD Network (2014) (0)
- Janaiah Kota in Nonhuman Primates Follistatin Gene Delivery Enhances Muscle Growth and Strength (2009) (0)
- Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study (P5.429) (2018) (0)
- Reply to Letter to the Editor submitted by Steven Greenberg: “Unfounded Claims of Improved Functional Outcomes Attributed to Follistatin Gene Therapy in Inclusion Body Myositis” (2017) (0)
- Identification and Quantitation of Potential Protein Biomarkers from Patients with Muscular Dystrophy. (2010) (0)
- Functional outcome measures and muscle MRI pattern recognition in dysferlinopathy: The JAIN COS Study (2017) (0)
- The heart in muscular dystrophies (2016) (0)
- Adeno-Associated Viral (AAV)-Mediated Follistatin (FS) Gene Transfer Toxicology Studies in Preparation for Phase I Clinical Trial (SC02.004) (2012) (0)
- Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy (2023) (0)
- PSY16 - HEALTH OUTCOME IMPROVEMENTS IN SPINAL MUSCULAR ATROPHY TYPE 1 PATIENTS WITH AVXS-101 GENE REPLACEMENT THERAPY (2018) (0)
- OUTCOME MEASURES P.252 Expansion of normative reference values for the 100 meter timed test for broad use across neuromuscular diseases (2020) (0)
- Oral Session II‐A (OII‐A) (2009) (0)
- T.P.38 Initial validity and test–retest reliability of ACTIVE-seated (Ability Captured Through Interactive Video Evaluation-seated) as an upper extremity outcome in Duchenne muscular dystrophy (2014) (0)
- Elucidating the Mechanism of Anoctamin 5 Deficiency with a Novel KO Mouse Model (P5.092) (2014) (0)
- Corrigendum: Novel single base polymorphisms and rare sequence variants in the laminin α2‐chain coding region detected by RNA/SSCP analysis (0)
- Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice (2017) (0)
- Patients with cerebral palsy and high degrees of scoliosis are at greater risk for needing food modifications (2018) (0)
- P.312Functional and histological improvements comparing 4 micro-dystrophin constructs in the mdx mouse model of DMD (2019) (0)
- DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.316Utility of ACTIVE workspace volume as a clinically meaningful measure of functional capacity in individuals with neuromuscular disease (2018) (0)
- SomaticReversion/Suppression inDuchenneMuscular (1992) (0)
- DUCHENNE MUSCULAR DYSTROPHY - GENETICS P.217Duchenne and Becker muscular dystrophy carrier mothers: characterization of skeletal and cardiac muscle compared to healthy controls (2018) (0)
- QUALITY IMPROVEMENT IN NEUROLOGY RESIDENCY PROGRAMS. AUTHORS' REPLY (1998) (0)
- Vascular Delivery of AAV.Micro-Dystrophin Using Whole Limb Re-Circulation in the Non-Human Primate as a Therapy for DMD (2013) (0)
- Case of the month. Latex hypersensitivity following exposure to gloves during electromyography (1993) (0)
- LGMD EP.185 Safety -sarcoglycan expression, and functional outcomes from systemic gene transfer of rAAVrh74.MHCK7.hSGCB in LGMD2E/R4 (2021) (0)
- OUTCOME MEASURES (2021) (0)
- P.335 Evaluating the effect of a monetary incentive on performance of the 100-meter timed test in Duchenne muscular dystrophy (2016) (0)
- S-6-4 Myotonia and periodic paralysis: implications of molecular defects for treatment (1995) (0)
- Reducing Skeletal Muscle Fibrosis with AAV-Delivered miR-29 (P04.089) (2012) (0)
- Obituary: M. Richard Koenigsberger: lifetime contributions to child neurology. (2013) (0)
- P.2.10 A shorter timed walking or running test may be sufficient for testing function in Duchenne muscular dystrophy (2013) (0)
- G.O.24 Eteplirsen in Duchenne Muscular Dystrophy (DMD): 3year update on Six-Minute Walk Test (6MWT) and Safety (2014) (0)
- IMAGING IN MIYOSHI'S MYOPATHY (1996) (0)
- T.O.1 RNAi therapy for LGMD1A (2012) (0)
- CSF delivery of AAV9-mediated gene therapy for SMA, a lethal neuromuscular disease in children: a dose-response study in mice and nonhuman primates (P3.133) (2017) (0)
- DMD - TREATMENT EP.152 ENDEAVOR: a gene delivery study to evaluate the safety of and expression from SRP-9001 in Duchenne muscular dystrophy (2021) (0)
- OUTCOME MEASURES P.242 Utility of the neuromuscular gross motor outcome to quantify function in neuromuscular disorders (2020) (0)
- Plasma exchange and prednisone in GBS (1986) (0)
- Defining Dystrophin-Specific T Cells in DMD Population (S15.001) (2012) (0)
- Immunosuppressive Treatment of Motor Neuron Syndromes-Reply (1995) (0)
- CHAPTER 7 – Gene Transfer for Neurological Disease: Agencies, Policies, and Process* (2006) (0)
- Letter to the Editor (1997) (0)
- DUCHENNE MUSCULAR DYSTROPHY - GENETICS P.219Duchenne and Becker muscular dystrophy carriers: emerging evidence for a clinically important cardiomyopathy (2018) (0)
- Patients with Myophosphorylase Deficiency (McArdle Disease) (2007) (0)
- S.P.3 Diverse walking distances predict functional outcomes in Duchenne Muscular Dystrophy (2012) (0)
- DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY P.317Clinically meaningful change on the 100 meter timed test in neuromuscular diseases (2018) (0)
- More than just fun and games: ACTIVE Workspace volume video game quantifies upper extremity function in individuals with neuromuscular disease (S31.004) (2018) (0)
- AVXS-101 Trial Experience: CHOP-INTEND Detects Early Improvements in Infants with SMA Type 1 but is not Sensitive to Continued Advances in Motor Function (S29.004) (2018) (0)
- 497. Follistatin Gene Therapy Improves Six Minute Walk Distance in Sporadic Inclusion Body Myositis (sIBM) (2016) (0)
- LIMB GIRDLE MUSCULAR DYSTROPHIES P.140 Systemic gene transfer with rAAVrh74.MHCK7.SGCB increased Beta-sarcoglycan expression in patients with Limb girdle muscular dystrophy type 2E (LGMD2E) (2020) (0)
- Anabolic steroids and muscular dystrophy (1963) (0)
- AVXS-101 Phase 1 Gene Replacement Therapy Clinical Trial in SMA Type 1: Continued Independence from Nutritional and Ventilatory Support in Patients Dosed Early in Disease Progression (S29.003) (2018) (0)
- More than just fun and games: ACTIVE Workspace volume video game quantifies upper extremity function in individuals with neuromuscular disease (S31.004) (2018) (0)
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What Schools Are Affiliated With Jerry R. Mendell?
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