Found: 34
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Temporal evolution of nerve conduction study abnormalities in anti-myelin-associated glycoprotein neuropathy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Impact of disuse muscular atrophy on the compound muscle action potential.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 579, doi. 10.3233/JND-200617
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- Publication type:
- Article
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.
- Published in:
- Current Neurology & Neuroscience Reports, 2015, v. 15, n. 9, p. 1, doi. 10.1007/s11910-015-0584-7
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- Publication type:
- Article
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
- Published in:
- 2020
- By:
- Publication type:
- journal article
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1519, doi. 10.1002/acn3.50855
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- Publication type:
- Article
Direct and indirect costs of idiopathic inflammatory myopathies in adults: A systematic review.
- Published in:
- PLoS ONE, 2024, v. 19, n. 7, p. 1, doi. 10.1371/journal.pone.0307144
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- Publication type:
- Article
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0254-x
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- Publication type:
- Article
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 746, doi. 10.1111/cge.13935
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- Publication type:
- Article
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 6, p. 558, doi. 10.1111/cge.12561
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- Publication type:
- Article
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 629, doi. 10.1002/acn3.51983
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- Publication type:
- Article
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1941, doi. 10.1002/acn3.51687
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- Publication type:
- Article
Myofibrillar Myopathy Mimicking Polyneuropathy.
- Published in:
- Case Reports in Neurology, 2020, v. 12, n. 1, p. 97, doi. 10.1159/000506193
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- Publication type:
- Article
Correction: Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 67, doi. 10.1186/1750-1172-7-67
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- Publication type:
- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1
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- Publication type:
- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Myosite à inclusions.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2024, v. 196, n. 26, p. E914, doi. 10.1503/cmaj.231815-f
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- Publication type:
- Article
Inclusion body myositis.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2024, v. 196, n. 14, p. E486, doi. 10.1503/cmaj.231815
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- Publication type:
- Article
Systematic prospective electrophysiological studies of the median nerve after simple distal radius fracture.
- Published in:
- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0231502
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- Publication type:
- Article
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 611, doi. 10.1002/humu.23211
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- Publication type:
- Article
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
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- Publication type:
- Article
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1820, doi. 10.1002/ajmg.a.37684
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- Publication type:
- Article
Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3209, doi. 10.1002/ajmg.a.36771
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- Publication type:
- Article
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1512, doi. 10.1002/ajmg.a.35409
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- Publication type:
- Article
Multifocal acquired demyelinating sensory and motor neuropathy presenting with a unilateral radial neuropathy.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 5, p. E21, doi. 10.1002/mus.27516
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- Publication type:
- Article
Laryngospasm in amyotrophic lateral sclerosis.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 4, p. 400, doi. 10.1002/mus.27466
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- Publication type:
- Article
Pseudohypertrophy of the extensor digitorum brevis in diabetic polyneuropathy.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 4, p. E20, doi. 10.1002/mus.27377
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- Publication type:
- Article
Systematic analysis of clinical deficits in unilateral hypoglossal nerve palsy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Very late-onset Sandhoff disease presenting as Kennedy disease.
- Published in:
- 2015
- By:
- Publication type:
- case study
Neurolymphomatosis of the lumbosacral plexus and its branches: case series and literature review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 4, p. 477, doi. 10.1001/jamaneurol.2015.4715
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- Publication type:
- Article
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02297-7
- By:
- Publication type:
- Article