Found: 38
Select item for more details and to access through your institution.
European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Thymus imaging in myasthenia gravis: The relevance in clinical practice.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The Association of British Neurologists' myasthenia gravis guidelines.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1412, n. 1, p. 166, doi. 10.1111/nyas.13503
- By:
- Publication type:
- Article
UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P6, doi. 10.1186/1750-1172-9-S1-P6
- By:
- Publication type:
- Article
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
- Published in:
- Nature Genetics, 2004, v. 36, n. 6, p. 597, doi. 10.1038/ng1328
- By:
- Publication type:
- Article
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
- Published in:
- Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354
- By:
- Publication type:
- Article
Neuromuscular Disorders: Clinical and Molecular Genetics.
- Published in:
- 1999
- By:
- Publication type:
- Book Review
Dystrophin: Gene, Protein and Cell Biology.
- Published in:
- 1997
- By:
- Publication type:
- Book Review
Myasthenia Gravis Seronegative for Acetylcholine Receptor Antibodies.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1132, p. 84, doi. 10.1196/annals.1405.020
- By:
- Publication type:
- Article
A protocol to develop clinical guidelines for inclusion-body myositis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal α-helical segment (This article is a US Government work and, as such, is in the public domain in the United States of America.).
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 6, p. 669, doi. 10.1002/mus.10370
- By:
- Publication type:
- Article
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1038, doi. 10.1038/ejhg.2011.84
- By:
- Publication type:
- Article
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
- By:
- Publication type:
- Article
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
- Published in:
- Clinical Rehabilitation, 2014, v. 28, n. 5, p. 508, doi. 10.1177/0269215513511340
- By:
- Publication type:
- Article
Supported community exercise in people with long-term neurological conditions: a phase II randomized controlled trial.
- Published in:
- Clinical Rehabilitation, 2011, v. 25, n. 7, p. 588, doi. 10.1177/0269215510392076
- By:
- Publication type:
- Article
Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII).
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 60, doi. 10.1002/jmd2.12232
- By:
- Publication type:
- Article
The need for biochemical testing in beta‐enolase deficiency in the genomic era.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 40, doi. 10.1002/jmd2.12070
- By:
- Publication type:
- Article
Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 6, p. 642, doi. 10.1001/jamaneurol.2015.0203
- By:
- Publication type:
- Article
Long-term observational study of sporadic inclusion body myositis.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3176, doi. 10.1093/brain/awr213
- By:
- Publication type:
- Article
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1798, doi. 10.1093/brain/awq109
- By:
- Publication type:
- Article
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1451, doi. 10.1093/brain/awq083
- By:
- Publication type:
- Article
MRI and clinical studies of facial and bulbar muscle involvement in MuSK antibody-associated myasthenia gravis.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1481, doi. 10.1093/brain/awl095
- By:
- Publication type:
- Article
THE MUSCULAR DYSTROPHIES.
- Published in:
- Brain: A Journal of Neurology, 2002, v. 125, n. 10, p. 2367
- By:
- Publication type:
- Article
Reduced oxidative phosphorylation and proton efflux suggest reduced capillary blood supply in skeletal muscle of patients with dermatomyositis and polymyositis: a quantitative 31P‐magnetic resonance spectroscopy and MRI study.
- Published in:
- Brain: A Journal of Neurology, 2002, v. 125, n. 7, p. 1635, doi. 10.1093/brain/awf163
- By:
- Publication type:
- Article
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Cardiac and respiratory failure in limb‐girdle muscular dystrophy 2I.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 5, p. 738
- By:
- Publication type:
- Article
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 5, p. 979, doi. 10.1007/s00415-017-8483-2
- By:
- Publication type:
- Article
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 7, p. 1401, doi. 10.1007/s00415-016-8132-1
- By:
- Publication type:
- Article
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 8, p. 1899, doi. 10.1007/s00415-015-7778-4
- By:
- Publication type:
- Article
A study of perceived facilitators to physical activity in neurological conditions.
- Published in:
- International Journal of Therapy & Rehabilitation, 2009, v. 16, n. 1, p. 17, doi. 10.12968/ijtr.2009.16.1.37936
- By:
- Publication type:
- Article
Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.
- Published in:
- Acta Neuropathologica, 2015, v. 129, n. 5, p. 611, doi. 10.1007/s00401-015-1384-5
- By:
- Publication type:
- Article
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
- By:
- Publication type:
- Article
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1111, doi. 10.1002/humu.22342
- By:
- Publication type:
- Article
Detection rate of Pompe disease in undiagnosed neuromuscular patients from four major centres in the UK - results of a 12 month prospective audit.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Dystrobrevin Deficiency at the Sarcolemma of Patients with Muscular Dystrophy.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1185, doi. 10.1093/hmg/6.7.1185
- By:
- Publication type:
- Article
Type 2 fiber predominance in lambert-eaton myasthenic syndrome.
- Published in:
- Muscle & Nerve, 1991, v. 14, n. 7, p. 625, doi. 10.1002/mus.880140705
- By:
- Publication type:
- Article