Found: 96
Select item for more details and to access through your institution.
Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine.
- Published in:
- Cephalalgia Reports, 2019, v. 2, p. N.PAG, doi. 10.1177/2515816319881630
- By:
- Publication type:
- Article
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3547, doi. 10.1093/brain/awae140
- By:
- 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
- By:
- 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
Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.
- Published in:
- Neurotoxicity Research, 2015, v. 28, n. 2, p. 138, doi. 10.1007/s12640-015-9532-1
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Mutations in the SPTLC1 Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts.
- Published in:
- DNA & Cell Biology, 2014, v. 33, n. 7, p. 399, doi. 10.1089/dna.2013.2182
- By:
- 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
- By:
- Publication type:
- Article
Sarcolemmal excitability in the myotonic dystrophies.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 6, p. 922, doi. 10.1002/mus.23743
- By:
- Publication type:
- Article
A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 3, p. 454, doi. 10.1002/mus.23346
- By:
- Publication type:
- Article
Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1).
- Published in:
- 1998
- By:
- Publication type:
- journal 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
- 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
- By:
- 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
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
- By:
- 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
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
- By:
- 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
- By:
- Publication type:
- 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
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
- By:
- 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
- By:
- Publication type:
- Article
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 12, p. 1424, doi. 10.1001/jamaneurol.2015.2274
- By:
- Publication type:
- Article
Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 11, p. 1268, doi. 10.1001/jamaneurol.2015.1872
- By:
- Publication type:
- Article
Axonal Ion Channel Dysfunction in C9orf72 Familial Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 1, p. 49, doi. 10.1001/jamaneurol.2014.2940
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 7, p. 1959, doi. 10.1093/brain/awr148
- By:
- Publication type:
- Article
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1741, doi. 10.1093/brain/awp115
- By:
- Publication type:
- Article
Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 6, p. 1540, doi. 10.1093/brain/awn071
- By:
- Publication type:
- Article
Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 6, p. 1540, doi. 10.1093/brain/awn071
- By:
- Publication type:
- Article
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22–p24.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 12, p. 2797, doi. 10.1093/brain/awh653
- By:
- Publication type:
- Article
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 10, p. 2304
- By:
- 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
- By:
- Publication type:
- Article
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 13, p. 2177, doi. 10.1093/hmg/ddad054
- By:
- Publication type:
- Article
Characterizing the molecular phenotype of an Atp7a<sup>T985I</sup> conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
- Published in:
- Metallomics, 2016, v. 8, n. 9, p. 981, doi. 10.1039/c6mt00082g
- By:
- Publication type:
- Article
Distribution of ubiquilin 2 and TDP‐43 aggregates throughout the CNS in UBQLN2 p.T487I‐linked amyotrophic lateral sclerosis and frontotemporal dementia.
- Published in:
- Brain Pathology, 2024, v. 34, n. 3, p. 1, doi. 10.1111/bpa.13230
- By:
- Publication type:
- Article
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Tau haplotypes regulate transcription and are associated with Parkinson's disease.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 3, p. 329
- By:
- Publication type:
- Article
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 422, doi. 10.1002/mgg3.390
- By:
- Publication type:
- Article
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 143, doi. 10.1002/mgg3.126
- By:
- Publication type:
- Article