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Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 5846, doi. 10.1007/s00415-024-12543-6
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- Publication type:
- Article
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
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- Journal of Neurology, 2024, v. 271, n. 9, p. 5778, doi. 10.1007/s00415-024-12538-3
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- Publication type:
- Article
A motor cortex excitability and gait analysis on Parkinsonian patients.
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- Movement Disorders, 2010, v. 25, n. 16, p. 2747, doi. 10.1002/mds.23378
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- Publication type:
- Article
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 369, doi. 10.3233/JND-230175
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- Publication type:
- Article
Longitudinal follow‐up and prognostic factors in nitrous oxide‐induced neuropathy.
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- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 252, doi. 10.1111/jns.12634
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- Publication type:
- Article
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain–Barré syndrome.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 535, doi. 10.1111/jns.12594
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- Publication type:
- Article
Featured Cover.
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 3, p. i, doi. 10.1111/jns.12466
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- Publication type:
- Article
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force—Second revision.
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 3, p. 242, doi. 10.1111/jns.12455
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- Publication type:
- Article
Determinants of health-related quality of life in anti- MAG neuropathy: a cross-sectional multicentre European study.
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- Journal of the Peripheral Nervous System, 2017, v. 22, n. 1, p. 27, doi. 10.1111/jns.12197
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- Publication type:
- Article
U1 snRNA mis-binding: a new cause of CMT1B.
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- Neurogenetics, 2010, v. 11, n. 1, p. 13, doi. 10.1007/s10048-009-0199-8
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- Publication type:
- Article
Estimation of subvoxel fat infiltration in neurodegenerative muscle disorders using quantitative multi‐T<sub>2</sub> analysis.
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- NMR in Biomedicine, 2023, v. 36, n. 9, p. 1, doi. 10.1002/nbm.4947
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- Publication type:
- Article
Region-specific impairment of the cervical spinal cord (SC) in amyotrophic lateral sclerosis: A preliminary study using SC templates and quantitative MRI (diffusion tensor imaging/inhomogeneous magnetization transfer).
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- NMR in Biomedicine, 2017, v. 30, n. 12, p. n/a, doi. 10.1002/nbm.3801
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- Publication type:
- Article
The Impact of Fatty Infiltration on MRI Segmentation of Lower Limb Muscles in Neuromuscular Diseases: A Comparative Study of Deep Learning Approaches.
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- Journal of Magnetic Resonance Imaging, 2023, v. 58, n. 6, p. 1826, doi. 10.1002/jmri.28708
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- Publication type:
- Article
The Impact of Fatty Infiltration on MRI Segmentation of Lower Limb Muscles in Neuromuscular Diseases: A Comparative Study of Deep Learning Approaches.
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- Journal of Magnetic Resonance Imaging, 2023, v. 58, n. 6, p. spcone, doi. 10.1002/jmri.28263
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- Publication type:
- Article
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1242277
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- Publication type:
- Article
Neurologic disorders and hepatitis E, France, 2010.
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- 2011
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- Publication type:
- journal article
Neurologic Disorders and Hepatitis E, France, 2010.
- Published in:
- 2011
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- Publication type:
- Case Study
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4206, doi. 10.1093/hmg/ddt272
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- Publication type:
- Article
MUSK, a new target for mutations causing congenital myasthenic syndrome.
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- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3229, doi. 10.1093/hmg/ddh333
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- Publication type:
- Article
Validation of ELISA assays for the calculation of FLC indices for the diagnosis of intrathecal immunoglobulin synthesis.
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- Clinical Chemistry & Laboratory Medicine, 2023, v. 61, n. 9, p. 1623, doi. 10.1515/cclm-2022-0602
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- Publication type:
- Article
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
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- Publication type:
- Article
Guillain-Barré syndrome after SARS-CoV-2 infection in an international prospective cohort study.
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- Brain: A Journal of Neurology, 2021, v. 144, n. 11, p. 3392, doi. 10.1093/brain/awab279
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- Publication type:
- Article
Regional variation of Guillain-Barré syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.
- Published in:
- 2017
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- Publication type:
- journal article
Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2221, doi. 10.3390/ijms21062221
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- Publication type:
- Article
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo- Humeral Dystrophy: a case report.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0328-9
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- Publication type:
- Article
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
- Published in:
- Genes, 2024, v. 15, n. 6, p. 692, doi. 10.3390/genes15060692
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- Publication type:
- Article
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing.
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- Genes, 2022, v. 13, n. 2, p. 318, doi. 10.3390/genes13020318
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- Publication type:
- Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
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- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
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- Publication type:
- Article
Deregulation of the Protocadherin Gene <i>FAT1</i> Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy.
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- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003550
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- Publication type:
- Article
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres.
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- Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 1, p. 621, doi. 10.1002/jcsm.12835
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- Publication type:
- Article
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
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- Clinical Genetics, 2022, v. 102, n. 5, p. 379, doi. 10.1111/cge.14198
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- Publication type:
- Article
Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.
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- Journal of Neurology, 2024, v. 271, n. 8, p. 4982, doi. 10.1007/s00415-024-12410-4
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- Publication type:
- Article
Clinical, biological, electrophysiological and therapeutic profile of patients with anti-MAG neuropathy according to MYD88<sup>L265P</sup> and CXCR4 mutations and underlying haemopathy.
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- Journal of Neurology, 2024, v. 271, n. 3, p. 1320, doi. 10.1007/s00415-023-12068-4
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- Publication type:
- Article
Clinical and genetic features of patients suffering from CMT4J.
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- Journal of Neurology, 2024, v. 271, n. 3, p. 1355, doi. 10.1007/s00415-023-12076-4
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- Publication type:
- Article
Face to Face: deciphering facial involvement in inclusion body myositis.
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- Journal of Neurology, 2024, v. 271, n. 1, p. 410, doi. 10.1007/s00415-023-11986-7
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- Publication type:
- Article
Hereditary neuropathy with liability to pressure palsies.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 8, p. 2198, doi. 10.1007/s00415-019-09319-8
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- Publication type:
- Article
Relevance of anti-HNK1 antibodies in the management of anti-MAG neuropathies.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 8, p. 1973, doi. 10.1007/s00415-019-09367-0
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- Publication type:
- Article
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
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- Journal of Neurology, 2019, v. 266, n. 3, p. 680, doi. 10.1007/s00415-019-09187-2
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- Publication type:
- Article
NEUROLOGIC DISORDERS AND HEPATITIS E, FRANCE, 2010.
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- Romanian Journal of Infectious Diseases / Revista Romana de de Boli Infectioase, 2011, v. 14, n. 3, p. 115
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- Publication type:
- Article
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A.
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- 2024
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- Publication type:
- Correction Notice
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.
- Published in:
- 2017
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- Publication type:
- journal article
Association between brain and upper cervical spinal cord atrophy assessed by MRI and disease aggressiveness in amyotrophic lateral sclerosis.
- Published in:
- Neuroradiology, 2023, v. 65, n. 9, p. 1395, doi. 10.1007/s00234-023-03191-0
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- Publication type:
- Article
Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
- Published in:
- 2016
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- Publication type:
- Correction Notice
A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0293-y
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- Publication type:
- Article
A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment.
- Published in:
- 2015
- By:
- Publication type:
- letter
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 234, doi. 10.1186/s13023-014-0199-0
- By:
- Publication type:
- Article
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Enhancement of single motor unit inhibitory responses to transcranial magnetic stimulation in amyotrophic lateral sclerosis.
- Published in:
- Experimental Brain Research, 2008, v. 189, n. 2, p. 229, doi. 10.1007/s00221-008-1420-y
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- Publication type:
- Article
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2023, v. 80, n. 6, p. 558, doi. 10.1001/jamaneurol.2023.0552
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- Publication type:
- Article