Kenneth H. Fischbeck
#141,202
Most Influential Person Now
Researcher
Kenneth H. Fischbeck's AcademicInfluence.com Rankings
Kenneth H. Fischbeckengineering Degrees
Engineering
#5288
World Rank
#6537
Historical Rank
Biomedical Engineering
#385
World Rank
#394
Historical Rank
Applied Physics
#1496
World Rank
#1528
Historical Rank
Electrical Engineering
#1459
World Rank
#1553
Historical Rank
Download Badge
Engineering
Kenneth H. Fischbeck's Degrees
- Masters Electrical Engineering Stanford University
Why Is Kenneth H. Fischbeck Influential?
(Suggest an Edit or Addition)Kenneth H. Fischbeck'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
- Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy (1991) (2713)
- Toxic Proteins in Neurodegenerative Disease (2002) (1197)
- Mutant dynactin in motor neuron disease (2003) (962)
- Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. (1988) (842)
- Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3 (1997) (822)
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (2004) (793)
- Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. (2004) (713)
- Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila (1998) (663)
- CREB-binding protein sequestration by expanded polyglutamine. (2000) (575)
- Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (2003) (526)
- Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein. (2003) (452)
- The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs (1988) (430)
- Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment (1985) (392)
- Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy (1992) (367)
- Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. (2000) (362)
- Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy (1998) (337)
- Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. (2007) (333)
- Enabling the genomic revolution in Africa (2014) (327)
- Trinucleotide repeats in neurogenetic disorders. (1996) (318)
- Valproic acid increases SMN levels in spinal muscular atrophy patient cells (2003) (308)
- Connexin32‐null mice develop demyelinating peripheral neuropathy (1998) (296)
- Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale (2005) (290)
- Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C (2010) (284)
- Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial (2007) (272)
- Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain (1997) (269)
- Regulation of SMN Protein Stability (2008) (263)
- Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations (2001) (257)
- Histone deacetylase inhibitors reduce polyglutamine toxicity (2001) (251)
- Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy (2009) (216)
- Altered Trafficking of Mutant Connexin32 (1997) (212)
- Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. (1998) (208)
- Precision of reinnervation of original postsynaptic sites in frog muscle after a nerve crush (1976) (206)
- Distal spinal and bulbar muscular atrophy caused by dynactin mutation (2005) (199)
- Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. (2008) (195)
- Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease (1994) (190)
- Trinucleotide repeat expansion in neurological disease (1994) (188)
- A motor neuron disease–associated mutation in p150Glued perturbs dynactin function and induces protein aggregation (2006) (176)
- Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer. (1994) (170)
- Clinical features of spinal and bulbar muscular atrophy (2009) (169)
- The role of histone acetylation in SMN gene expression. (2005) (156)
- Transient central nervous system white matter abnormality in X‐linked Charcot‐Marie‐Tooth disease (2002) (155)
- Mitochondrial abnormalities in spinal and bulbar muscular atrophy (2008) (154)
- Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis (1987) (154)
- Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. (2003) (154)
- Therapeutics development for triplet repeat expansion diseases (2005) (152)
- Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. (1997) (151)
- Mechanisms, models and biomarkers in amyotrophic lateral sclerosis (2013) (148)
- Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice (1995) (147)
- Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. (1996) (146)
- Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. (2002) (146)
- Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy. (1998) (145)
- Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. (2007) (142)
- Familial X‐linked myalgia and cramps (1989) (141)
- Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial (2011) (136)
- Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. (2005) (128)
- Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. (2010) (125)
- Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. (2012) (123)
- Connexin32 and X-linked Charcot–Marie–Tooth Disease (1997) (123)
- Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons (2006) (112)
- A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo (2013) (111)
- Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters. (2018) (110)
- X‐linked neuropathy: Gene localization with DNA probes (1986) (108)
- Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels (2011) (107)
- Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. (1998) (102)
- Severe neuropathy with leaky connexin32 hemichannels (2005) (98)
- Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich's Ataxia Patients: Cellular Model of Pathology (2010) (96)
- A Cell Culture Model for Androgen Effects in Motor Neurons (1998) (94)
- Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. (1998) (90)
- Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease (1995) (90)
- Hereditary motor and sensory neuropathy, X‐linked (1987) (89)
- Cerebellar atrophy in a patient with velocardiofacial syndrome. (1995) (88)
- Freeze-fracture studies of muscle caveolae in human muscular dystrophy. (1981) (87)
- Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System (1997) (85)
- Polyglutamine and CBP: Fatal attraction? (2001) (84)
- Founder effect in spinal and bulbar muscular atrophy (SBMA). (1996) (84)
- Localization of the gene for X‐linked spinal muscular atrophy (1986) (84)
- Triplet repeat expansion in neuromuscular disease (2000) (82)
- Linkage localization of X-linked Charcot-Marie-Tooth disease. (1993) (81)
- Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (2007) (78)
- SMN mRNA and protein levels in peripheral blood (2006) (78)
- GARS axonopathy: not every neuron's cup of tRNA (2010) (77)
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. (2019) (77)
- Polyglutamine expansion neurodegenerative disease (2001) (75)
- Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. (2011) (75)
- Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 (2013) (72)
- Transgenic Expression of Human Connexin32 in Myelinating Schwann Cells Prevents Demyelination in Connexin32-Null Mice (2005) (72)
- New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease (1995) (70)
- Paroxysmal choreoathetosis associated with thyrotoxicosis (1979) (68)
- Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy (2012) (67)
- Kennedy disease (1997) (67)
- Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. (1994) (67)
- Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk (2009) (64)
- Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. (2014) (64)
- CAG repeat length variation in sperm from a patient with Kennedy's disease. (1995) (62)
- Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. (2012) (62)
- X‐linked spinomuscular atrophy (1992) (60)
- The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein (2013) (60)
- A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. (1994) (59)
- Neurological manifestations of accidental hypothermia (1981) (59)
- A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20 (2008) (58)
- The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease. (1999) (58)
- Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia (1998) (57)
- Duchenne muscular dystrophy gene expression in normal and diseased human muscle. (1988) (57)
- Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease (1998) (57)
- A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor. (2003) (56)
- Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. (2015) (54)
- Clinical experience with high-dose idebenone in Friedreich ataxia (2009) (53)
- Paternal transmission of congenital myotonic dystrophy. (1994) (51)
- RECOMBINATION WITH PERT87 (DXS164) IN FAMILIES WITH X-LINKED MUSCULAR DYSTROPHY (1986) (49)
- Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. (1991) (49)
- Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics (2008) (48)
- Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients (2014) (47)
- Spinal and bulbar muscular atrophy: pathogenesis and clinical management. (2014) (47)
- Increased serum transferrin receptor concentrations in Friedreich ataxia (2000) (46)
- The effects of a dominant connexin32 mutant in myelinating Schwann cells (2006) (46)
- Running endurance abnormality in mdx mice (2002) (46)
- Androgen receptor mutation in Kennedy's disease. (1999) (46)
- A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study (2015) (45)
- A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy. (2016) (44)
- Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy* (2014) (42)
- A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4 ) localizes to a 500-kb interval on chromosome 9q34 (2000) (40)
- Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat (2014) (40)
- Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion (1991) (39)
- Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease. (1999) (37)
- Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. (1986) (37)
- Spinal muscular atrophy in the neonate. (2004) (36)
- Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy (2016) (35)
- Assessing Function and Endurance in Adults with Spinal and Bulbar Muscular Atrophy: Validity of the Adult Myopathy Assessment Tool (2014) (35)
- A novel cell immunoassay to measure survival of motor neurons protein in blood cells (2006) (34)
- Chronic tetanus: Clinical report and histochemistry of muscle (1981) (33)
- A candidate gene for X-linked spinal muscular atrophy. (1991) (33)
- Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy (2016) (32)
- Hereditary retinal vasculopathy with cerebral white matter lesions. (1989) (31)
- Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family (2012) (31)
- CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy (2016) (30)
- Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (1999) (30)
- A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy (1999) (30)
- CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila (2014) (29)
- B2 attenuates polyglutamine‐expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy (2010) (29)
- Connexin32 and X-linked Charcot-Marie-Tooth disease. (1997) (29)
- Carrier testing for spinal muscular atrophy (2010) (28)
- Standard and modified statistical mune evaluations in spinal‐bulbar muscular atrophy (2009) (28)
- Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies (2015) (27)
- Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion (2017) (26)
- Complicated hereditary spastic paraparesis with cerebral white matter lesions. (1990) (26)
- MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy (2016) (26)
- A randomized controlled trial of exercise in spinal and bulbar muscular atrophy (2015) (26)
- Spinal and Bulbar Muscular Atrophy. (2015) (25)
- Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy (2017) (25)
- A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female (1999) (25)
- A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research. (2016) (25)
- Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa (2014) (23)
- Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19 (2010) (23)
- Somatic stability of the expanded CAG trinucleotide repeat in X‐linked spinal and bulbar muscular atrophy (1996) (23)
- Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial (2018) (23)
- Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention? (2002) (22)
- Molecular biology of duchenne and Becker's muscular dystrophy: Clinical applications (1989) (21)
- Developing treatment for spinal and bulbar muscular atrophy (2012) (21)
- Cerebral abscess in children secondary to esophageal dilatation. (1977) (21)
- A candidate gene for autoimmune myasthenia gravis (2012) (20)
- The Role of the Gap Junction Protein Connexin32 in the Myelin Sheath (1997) (20)
- Genetic testing and counseling for hereditary neurological diseases in Mali (2011) (20)
- Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy (2017) (20)
- X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. (1994) (20)
- Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease (2009) (19)
- X‐linked Charcot‐Marie‐Tooth Disease and Connexin32 (1999) (18)
- Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy (1994) (17)
- A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus. (1989) (17)
- Jaw drop in Kennedy’s disease (2002) (16)
- Muscle Matters in Kennedy’s Disease (2014) (16)
- ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice. (2016) (16)
- Freeze‐fracture analysis of plasma membrane cholesterol in duchenne muscle (1983) (16)
- Freeze‐Fracture Studies of Denervated and Tenotomized Rat Muscle (1985) (15)
- Spinal muscular atrophy. (2018) (15)
- Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy (2016) (15)
- Biomedicine - Toxic proteins in neurodegenerative disease (2002) (15)
- Spinal and Bulbar Muscular Atrophy Overview (2016) (15)
- Clinical and genetic analysis of spinocerebellar ataxia in Mali (2011) (15)
- Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA) (2020) (14)
- Amyotrophic lateral sclerosis and spinocerebellar ataxia 2 (2011) (14)
- Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease (1999) (14)
- Proceedings of the fourth international conference on central hypoventilation (2014) (14)
- Common data elements for clinical research in Friedreich's ataxia (2013) (14)
- Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons. (2020) (12)
- Connexin32 and X-linked Charcot-Marie-Tooth Disease (1996) (12)
- A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease (2019) (12)
- Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy (2017) (12)
- Is CMTX an axonopathy? (1999) (12)
- Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity (2021) (12)
- A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss (2017) (12)
- Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4 (2020) (11)
- Therapeutic approaches to spinal and bulbar muscular atrophy. (2010) (11)
- Clinical and molecular aspects of senataxin mutations in ALS4. (2020) (10)
- Facioscapulohumeral muscular dystrophy defect identified (1992) (10)
- Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. (1995) (10)
- Combinatorial treatment for spinal muscular atrophy (2020) (9)
- Effects of ATP depletion and protein synthesis inhibition on muscle plasma membrane orthogonal arrays (1984) (9)
- Freeze-fracture analysis of plasma membrane cholesterol in fast- and slow-twitch muscles. (1982) (9)
- X-linked Charcot-Marie-Tooth disease and connexin32. (1999) (9)
- A small-molecule Nrf 1 and Nrf 2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy (2016) (8)
- The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity (2015) (8)
- Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo (2016) (8)
- Hereditary spastic paraplegia type 35 in a family from Mali (2019) (8)
- Immunosuppression for multiple sclerosis. (1983) (8)
- Sneeze-induced hemiparesis from unruptured intracranial aneurysm. (1982) (8)
- Genetics and genomic medicine in Mali: challenges and future perspectives (2016) (7)
- Nicotinamide in Friedreich's ataxia: useful or not? (2014) (7)
- Sexual Reassignment Fails to Prevent Kennedy's Disease. (2016) (7)
- Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency (2015) (7)
- Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents (2018) (7)
- Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia (2012) (7)
- Variability of X‐linked muscular dystrophy (1983) (7)
- Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results (1991) (7)
- The difference between Duchenne and Becker dystrophies (1989) (7)
- Nucleocytoplasmic transport defect in a North American patient with ALS8 (2018) (7)
- The mechanism of myotonic dystrophy (1994) (7)
- Freeze-fracture characterization of 'young' and 'old' human erythrocytes. (1982) (6)
- Neurogenic and Myogenic Contributions to Hereditary Motor Neuron Disease (2012) (6)
- Distribution of freeze fracture particle sizes in Duchenne muscle plasma membrane (1984) (6)
- Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy (2017) (6)
- Freeze‐fracture study of muscle plasma membrane in obligate carriers of Duchenne muscular dystrophy (1983) (6)
- Mining the genome for causes and cures of neurological disease. (2001) (5)
- The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/CCdh1 ubiquitin ligase complex (2016) (5)
- Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III) (1997) (5)
- Epilepsy genetics in Africa: challenges and future perspectives. (2014) (4)
- Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD) (1992) (4)
- Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment (2020) (4)
- Maybe too much of a good thing in gene therapy (2021) (4)
- Nucleic acid therapeutics in neurodevelopmental disease. (2020) (4)
- Repeat expansion and neurological disease (2002) (4)
- Concentric exercise effects on skeletal muscle water T2 in Duchenne muscular dystrophy (P2.131) (2017) (4)
- Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases (2021) (4)
- Anti‐androgen treatment for spinal and bulbar muscular atrophy (2009) (3)
- Therapeutic Prospects for Polyglutamine Disease (2010) (3)
- A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein. (2021) (3)
- A novel variant in the spatacsin gene causing SPG11 in a Malian family (2020) (3)
- CHAPTER 13 – Clinical Features and Molecular Biology of Kennedy's Disease (2006) (3)
- A role for androgen reduction treatment in kennedy disease? (2013) (3)
- in p150 Glued perturbs dynactin function and induces protein aggregation (2006) (3)
- Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (3)
- Sneeze‐induced hemiparesis (1982) (3)
- Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A. (1993) (3)
- 44 – Spinal Muscular Atrophy (2007) (2)
- Oligonucleotide Treatment for Huntington's Disease. (2019) (2)
- IS CMTX AN AXONOPATHY? AUTHORS' REPLY (1999) (2)
- Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease (2022) (2)
- GJB1 variants in Charcot‐Marie‐Tooth disease X‐linked type 1 in Mali (2022) (2)
- Effi cacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy : a randomised placebo-controlled trial (2011) (1)
- Disease Manifestations in a Spinal and Bulbar Muscular Atrophy Patient after Feminization for Gender Reassignment (P2.003) (2015) (1)
- Potential pitfalls in using DNA probes to counsel Duchenne and Becker muscular dystrophy families. (1992) (1)
- Corrigendum: Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice (1995) (1)
- Detection of truncated dystrophin in fetal DMD myotubes. (1990) (1)
- Clinical and Genetic Aspects of Huntington's Disease in the Malian Population. (2022) (1)
- Short Communication Nonneural Nuclear Inclusions of Androgen Receptor Protein in Spinal and Bulbar Muscular Atrophy (1998) (1)
- Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration (2022) (1)
- Erythrocyte membrane studies (1981) (1)
- SMN Modulator ML372 Increases SMN Protein Abundance, Body Weight, Lifespan, and Rescues Motor Function in SMNΔ7 SMA Mice (2015) (1)
- Hereditary spastic paraplegia in Mali: epidemiological and clinical features. (2022) (1)
- [Past, present, and future of polyglutamine expansion disease]. (2011) (1)
- Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians? (2016) (1)
- Friedreich ataxia in a family from Mali, West Africa (2021) (1)
- Neurological eff ects of high-dose idebenone in patients with Friedreich ’ s ataxia : a randomised , placebo-controlled trial (2007) (1)
- Instability of CAG repeat expansions introduced into yeast artificial chromosomes (1996) (1)
- Spinal and Bulbar Muscular Atrophy Overview (2015) (0)
- [Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"]. (2022) (0)
- Orthopaedic management of neuromuscular disorders By James C. Drenizan Philadelphia, J. B. Lippincott Company, 1983 306 pp, illustrated, $42.00 (1984) (0)
- Myasthenia gravis. Passive transfer from man to mice with immunoglobulins. Abstr. (1976) (0)
- Myotonic dystrophy, Ed 2 By Peter S. Harper London, Saunders, 1989 384 pp, Illustrated, $80.00 (1991) (0)
- Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy (2021) (0)
- G.O.10 Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in boys with Duchenne muscular dystrophy (2014) (0)
- Therapeutics Development for Hereditary Neurological Diseases (2005) (0)
- Targeting the 5 0 untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy (2021) (0)
- Kennedy's disease (1993) (0)
- Very long CAG repeats in the androgen receptor gene induce cell death in a cell culture system (1997) (0)
- Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn (2021) (0)
- improbable molecular results and the need to reevaluate a priori genetic risks: A report of 2 neuromuscular disorders (1994) (0)
- United States Patent ( 19 ) Fischbeck ( 54 DUAL MODE INKJET PRINTER (2017) (0)
- With piezo transducer operated fluessigkeitstroepfchen-delivery device (1980) (0)
- ZASP Mutations in Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy (2014) (0)
- Farbduesenvorrichtung with very dense, linear arrangement of farbduesen (1976) (0)
- CRISPR Gene Editing Successfully Treats Lethal Monogenic Lung Disease in Utero (2019) (0)
- CASE REPORT SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT (2022) (0)
- A placebo-controlled study to evaluate the safety, tolerability, and preliminary efficacy of BVS857 in patients with spinal and bulbar muscular atrophy (S13.003) (2017) (0)
- Clinical features of spinal and bulbar muscular (2009) (0)
- A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female. (1999) (0)
- Patient Reported Impact of Symptoms in Spinal Bulbar Muscular Atrophy (PRISM-SBMA) (S33.007) (2023) (0)
- 108. Umbilical cord blood transplant of three siblings with juvenile metachromatic leukodystrophy (jMLD): Five year follow-up (2010) (0)
- SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT (2022) (0)
- Atypical Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat (P1.087) (2014) (0)
- A linkage study of x linked dominant hereditary motor and sensory neuropathy hmsn with highly informative pericentric markers (1991) (0)
- KN3 Genes and proteins: The impact of the new genetics on clinical neuroscience (2006) (0)
- A small-molecule activator of Hsf1, Nrf1, and Nrf2 mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy models (S34.006) (2015) (0)
- Safety, tolerability, and pharmacokinetics of idebenone in a dose‐escalation trial in patients with Friedreich's ataxia (2005) (0)
- Duchenne muscular dystrophy. By Alan E. H. Emery Oxford, Oxford University Press, 1987 315 pp, illustrated, $55.00 (1988) (0)
- Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in a trial of exon-skipping for boys with Duchenne muscular dystrophy (P5.052) (2015) (0)
- Clinical, paraclinical and genetic aspects of autosomal recessive cerebellar ataxias (ARCA) in Mali. (2022) (0)
- The neurology handbook. By Labe C. Scheinberg, Barbara S. Giesser, And Herbert H. Schaumburg New Hyde Park, NY, Medical Examination Publishing Company, 1983 184Pp, $11.95 (1983) (0)
- The Genetic Signature of Sex Chromosome-Related Mutations Expressing as a Neurodegenerative Disorders: Rarity, Randomness or Underestimation? (P5.052) (2016) (0)
- The Androgen Receptor and Spinal and Bulbar Muscular Atrophy (2005) (0)
- Filaments in Myofibrillar Myopathy Cause Disruption of Skeletal Muscle Actin Mutations in the Actin-binding Domain PDZ Motif-containing Protein ( ZASP ) Z-disc-associated , Alternatively Spliced , Molecular Bases of Disease : (2014) (0)
- Editorial Board (2010) (0)
- Inhibition of the Rho‐kinase (ROCK) pathway improves morphology and stress granule formation in ALS4 patient iPSC‐derived motor neurons (2019) (0)
- The Path to Therapeutics Development for Spinal Muscular Atrophy (2017) (0)
- Mutations In Zaspopathy Cause Disruption Of Actinin-Crosslinked Actin Filaments, The Core Structure Of Skeletal Muscle Z-discs (S61.007) (2014) (0)
- A linkage study of x linked hereditary motor and sensory neuropathy hmsn with m27 beta (1991) (0)
- A Quality of Life Measurement for Spinal and Bulbar Muscular Atrophy (P3.126) (2017) (0)
- Inherited ataxia. Advances in neurology, vol 61. Edited by A. E. Harding and Thomas Deufel, New York, Raven. 1993, 217 pp, illustrated, $95.00 (1993) (0)
- Editorial Board (2011) (0)
- Genetic Heterogeneity in Duchenne Dystrophy (1987) (0)
- Impact of the human genome sequence on neurology and neuroscience. (2001) (0)
- Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family (2021) (0)
- Velocardiofacial Syndrome (2020) (0)
- [A transferable "Myasthenogenic" factor in the serum of patients with myasthenia gravis.]. (1976) (0)
- Erythrocyte membrane studies (1982) (0)
- Bulbospinal muscular atrophy (1987) (0)
- Polyglutamine toxicity in spinal and bulbar muscular atrophy (2003) (0)
- Non-Neuromuscular Manifestations of Spinal and Bulbar Muscular Atrophy (P7.054) (2015) (0)
- Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy (2020) (0)
- Clinical findings in amyotrophic lateral sclerosis type 4 (S54.003) (2019) (0)
- X-Linked Recessive Axonal Neuropathy with Deafness and Cognitive Impairment (Cowchock Syndrome) Is Associated with Mutation in AIFM1 (S07.007) (2012) (0)
- Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (0)
- Serial electrophysiological measurements of of visual function in infantile neuronal lipofuscinosis. (2004) (0)
- Connexin32 expression in central and peripheral nervous systems (1994) (0)
- Jet spray nozzles (1988) (0)
- Spironolactone Treatment in a Cell Culture Model of Spinal and Bulbar Muscular Atrophy (2013) (0)
- Chapter 17 Kennedy's Disease (2003) (0)
- Shear force transmitter for inkjet systems. (1989) (0)
- Duchenne muscular dystrophy, ed 2. Edited Alan E. H. Emery Oxford, University, 1993 392 pp, illustrated, $75.00 (1994) (0)
- 105. Motor unit number estimating evaluations in spinobulbar muscular atrophy (2008) (0)
- Upper arm, pulmonary and cardiac magnetic resonance imaging for relative disease status in Duchenne muscular dystrophy (P1.130) (2017) (0)
- Book Review Neurodegenerative Diseases: Neurobiology, Pathogenesis and Therapeutics Edited by M. Flint Beal, Anthony E. Lang, and Albert Ludolph. 985 pp., illustrated. Cambridge, England, Cambridge University Press, 2005. $400. 0-521-81166-X (2006) (0)
- WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. (2008) (0)
- The expanded trinucleotide repeat in Kennedy's disease. (1995) (0)
- Apparatus for producing detachable fluessigkeitstroepfchen and drive elements therefor (1977) (0)
- A Randomized Study of Exercise in Spinal and Bulbar Muscular Atrophy (P7.046) (2015) (0)
This paper list is powered by the following services:
What Schools Are Affiliated With Kenneth H. Fischbeck?
Kenneth H. Fischbeck is affiliated with the following schools:
