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Mutation Testing in Charcot-Marie-Tooth Neuropathy.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 383, doi. 10.1111/j.1749-6632.1999.tb08599.x
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- Publication type:
- Article
A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene.
- Published in:
- 2018
- By:
- Publication type:
- letter
"Dancing feet dyskinesias": a clue to parkin gene mutations.
- Published in:
- 2012
- By:
- Publication type:
- case study
'Dancing feet dyskinesias': A clue to parkin gene mutations.
- Published in:
- Movement Disorders, 2012, v. 27, n. 4, p. 587, doi. 10.1002/mds.24894
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- Publication type:
- Article
Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
- Published in:
- Movement Disorders, 2002, v. 17, n. 3, p. 585, doi. 10.1002/mds.10175
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- Publication type:
- Article
A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 559, doi. 10.1007/s00439-007-0348-9
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- Publication type:
- Article
Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis.
- Published in:
- Human Genetics, 2000, v. 106, n. 6, p. 594, doi. 10.1007/s004390000306
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- Publication type:
- Article
A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 262, doi. 10.1111/jns.12637
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- Publication type:
- Article
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 120, doi. 10.1111/jns.12485
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- Publication type:
- Article
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 224, doi. 10.1111/jns.12315
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- Publication type:
- Article
Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 4, p. 357, doi. 10.1111/jns.12191
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- Publication type:
- Article
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 9, p. 2018, doi. 10.3390/cells9092018
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- Publication type:
- Article
Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3.
- Published in:
- FASEB Journal, 2024, v. 38, n. 2, p. 1, doi. 10.1096/fj.202300963RR
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- Publication type:
- Article
Motor neurone disease and the life of motor neurones.
- Published in:
- Medical Journal of Australia, 1996, v. 165, n. 4, p. 180, doi. 10.5694/j.1326-5377.1996.tb124918.x
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- Publication type:
- Article
Molecular dissection of genetic diseases of brain and muscle*.
- Published in:
- Medical Journal of Australia, 1993, v. 159, n. 1, p. 52, doi. 10.5694/j.1326-5377.1993.tb137706.x
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- Publication type:
- Article
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
- Published in:
- Neurogenetics, 2021, v. 22, n. 3, p. 149, doi. 10.1007/s10048-021-00650-9
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- Publication type:
- Article
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
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- Publication type:
- Article
Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
- Published in:
- Neurogenetics, 2014, v. 15, n. 4, p. 229, doi. 10.1007/s10048-014-0414-0
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- Publication type:
- Article
X-linked CMT: genes and gene loci in an Australian cohort.
- Published in:
- 2010
- By:
- Publication type:
- Letter
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 135, doi. 10.1007/s10048-008-0168-7
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- Publication type:
- Article
Evidence of a founder haplotype refines the X-linked Charcot–Marie-Tooth (CMTX3) locus to a 2.5 Mb region.
- Published in:
- Neurogenetics, 2008, v. 9, n. 3, p. 191, doi. 10.1007/s10048-008-0126-4
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- Publication type:
- Article
Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1.
- Published in:
- Human Heredity, 1995, v. 45, n. 3, p. 121, doi. 10.1159/000154272
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- Publication type:
- Article
Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44765-4
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- Publication type:
- Article
A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1404, doi. 10.1093/hmg/dds557
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- Publication type:
- Article
Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo.
- Published in:
- Molecular Brain, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13041-021-00839-x
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- Publication type:
- Article
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 880, doi. 10.1093/brain/awac424
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- Publication type:
- Article
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
- Published in:
- 2020
- By:
- Publication type:
- letter
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
- Published in:
- 2018
- By:
- Publication type:
- letter
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
- Published in:
- 2016
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- Publication type:
- journal article
Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genes.
- Published in:
- Neurogenetics, 2004, v. 5, n. 3, p. 197, doi. 10.1007/s10048-004-0185-0
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- Publication type:
- Article
Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1).
- Published in:
- 1998
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- Publication type:
- journal article
Effect of neural activity on skeletal muscle phosphoproteins.
- Published in:
- Muscle & Nerve, 1990, v. 13, n. 8, p. 675, doi. 10.1002/mus.880130803
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- Publication type:
- Article
The effect of aerobic exercise on serum creatine kinase activities.
- Published in:
- Muscle & Nerve, 1986, v. 9, n. 9, p. 820, doi. 10.1002/mus.880090905
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- Publication type:
- Article
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.
- Published in:
- Neurodegenerative Diseases, 2017, v. 17, n. 6, p. 304, doi. 10.1159/000481258
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- Publication type:
- Article
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 595, doi. 10.1038/ng.830
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- Publication type:
- Article
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 289, doi. 10.1038/ng1514
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- Publication type:
- Article
Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy.
- Published in:
- Journal of Neuroscience, 2017, v. 37, n. 32, p. 7782, doi. 10.1523/JNEUROSCI.1142-17.2017
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- Publication type:
- Article
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55875-4
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- Publication type:
- Article
Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0090572
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- Publication type:
- Article
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 309, doi. 10.1038/85879
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- Publication type:
- Article
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
- Published in:
- Human Genetics, 2016, v. 135, n. 11, p. 1269, doi. 10.1007/s00439-016-1720-4
- By:
- Publication type:
- Article
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34620-y
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- Publication type:
- Article
Intermediate forms of Charcot-Marie-Tooth neuropathy.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 123, doi. 10.1385/NMM:8:1-2:123
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- Publication type:
- Article
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00139-8
- By:
- Publication type:
- Article
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations.
- Published in:
- Molecular Neurodegeneration, 2020, v. 15, n. 1, p. 1, doi. 10.1186/s13024-020-00386-4
- By:
- Publication type:
- Article
Peripheral neuropathies of infancy.
- Published in:
- Developmental Medicine & Child Neurology, 2003, v. 45, n. 6, p. 408, doi. 10.1017/S0012162203000768
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- Publication type:
- Article