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)
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- 066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update (2019) (3)
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- 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)
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- 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)
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- 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)
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- 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)
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- 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)
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- Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach (2022) (1)
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- P.14.17 Evaluation of the ability of timed walking tests to quantify function in sporadic inclusion body myositis (2013) (1)
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- 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)
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- 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)
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- 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)
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- 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)
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- 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)
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- 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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