Found: 18
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LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 125, doi. 10.3233/JND-221555
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- Publication type:
- Article
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 495, doi. 10.3233/JND-200620
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- Publication type:
- Article
Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.
- Published in:
- 2018
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- Publication type:
- journal article
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 67, doi. 10.1007/s10048-018-0539-7
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- Publication type:
- Article
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00451-1
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- Publication type:
- Article
Natural History of Adult Patients with GM2 Gangliosidosis.
- Published in:
- 2020
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- Publication type:
- journal article
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03008-6
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- Publication type:
- Article
Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.
- Published in:
- 2017
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- Publication type:
- journal article
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 799, doi. 10.1007/s10545-018-0162-7
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- Publication type:
- Article
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
- Published in:
- 2020
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- Publication type:
- journal article
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.
- Published in:
- 2019
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- Publication type:
- journal article
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
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- Publication type:
- Article
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
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- Publication type:
- Article
Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 8, p. 2506, doi. 10.1111/ene.15832
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- Publication type:
- Article
SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 7, p. 2001, doi. 10.1111/ene.15793
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- Publication type:
- Article
Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 9, p. 2913, doi. 10.1111/ene.14948
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- Publication type:
- Article
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 6, p. 2092, doi. 10.1111/ene.14821
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- Publication type:
- Article
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
- Published in:
- 2021
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- Publication type:
- journal article