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Unique exercise Lactate profile in Muscle phosphofructokinase deficiency (tarui disease); difference Compared with Mcardle disease.
- Published in:
- Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00082
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- Article
Borderlines between sarcopenia and mild late-onset muscle disease.
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- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00267
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- Article
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3800, doi. 10.1093/brain/awad088
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- Article
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
- Published in:
- 2019
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- journal article
Atypical phenotypes in titinopathies explained by second titin mutations.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 2, p. 230, doi. 10.1002/ana.24102
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- Article
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
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- Molecular Neurobiology, 2017, v. 54, n. 9, p. 7212, doi. 10.1007/s12035-016-0242-3
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- Article
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
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- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0276-9
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- Article
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
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- Article
Speech deterioration in amyotrophic lateral sclerosis (ALS) after manifestation of bulbar symptoms.
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- International Journal of Language & Communication Disorders, 2018, v. 53, n. 2, p. 385, doi. 10.1111/1460-6984.12357
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- Publication type:
- Article
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 1802, doi. 10.1007/s00415-023-12110-5
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- Article
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.
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- Journal of Neurology, 2022, v. 269, n. 8, p. 4161, doi. 10.1007/s00415-022-11029-7
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- Publication type:
- Article
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 7, p. 1649, doi. 10.1007/s00415-019-09307-y
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- Publication type:
- Article
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 3, p. 680, doi. 10.1007/s00415-019-09187-2
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- Publication type:
- Article
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 2, p. 353, doi. 10.1007/s00415-018-9137-8
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- Publication type:
- Article
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
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- Clinical Case Reports, 2016, v. 4, n. 12, p. 1151, doi. 10.1002/ccr3.722
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- Article
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 686, doi. 10.1002/acn3.51760
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- Publication type:
- Article
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
- Published in:
- Acta Neuropathologica Communications, 2022, p. 1, doi. 10.1186/s40478-022-01491-9
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- Publication type:
- Article
Ubiquitin Carboxy-Terminal Hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure.
- Published in:
- BMC Neurology, 2012, v. 12, n. 1, p. 85, doi. 10.1186/1471-2377-12-85
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- Article
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
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- 2018
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- Publication type:
- journal article
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
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- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186642
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- Article
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.
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- Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
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- Publication type:
- Article
Levels of IL-1β and IL-1ra in Cerebrospinal Fluid of Human Patients after Single and Prolonged Seizures.
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- Neuroimmunomodulation, 2009, v. 17, n. 1, p. 19, doi. 10.1159/000243081
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- Article
Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey.
- Published in:
- 2018
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- Publication type:
- journal article
Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases.
- Published in:
- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2021.835839
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- Publication type:
- Article
Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151376
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- Publication type:
- Article