Found: 45
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- Correction Notice
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
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X-linked inheritance.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1390, doi. 10.1002/ajmg.a.35871
- By:
- Publication type:
- Article
Infirmière de coopération et prise en charge des patients atteints de dystrophie myotonique de type 1 (maladie de Steinert).
- Published in:
- Médecine Sciences, 2020, v. 36, p. 59, doi. 10.1051/medsci/2020212
- By:
- Publication type:
- Article
Human MuStem cells repress T-cell proliferation and cytotoxicity through both paracrine and contact-dependent pathways.
- Published in:
- Stem Cell Research & Therapy, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13287-021-02681-3
- By:
- Publication type:
- Article
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Vincristine-induced neuropathy: Atypical electrophysiological patterns in children.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Non-invasive assessment of muscle stiffness in patients with duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 2, p. 284, doi. 10.1002/mus.24445
- By:
- Publication type:
- Article
Immunophenotype of a Rat Model of Duchenne's Disease and Demonstration of Improved Muscle Strength After Anti-CD45RC Antibody Treatment.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02131
- By:
- Publication type:
- Article
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
- Published in:
- Andrologia, 2021, v. 53, n. 1, p. 1, doi. 10.1111/and.13865
- By:
- Publication type:
- Article
Diabetic polyneuropathy with/out neuropathic pain in Mali: A cross-sectional study in two reference diabetes treatment centers in Bamako (Mali), Western Africa.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0241387
- By:
- Publication type:
- Article
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 573, doi. 10.1001/jamaneurol.2017.4778
- By:
- Publication type:
- Article
Bedside diagnosis of bilateral diaphragmatic paralysis.
- Published in:
- 2013
- By:
- Publication type:
- Letter
PROPERTY: study protocol for a randomized, double-blind, multicenter placebo-controlled trial assessing neurotoxicity in patients with metastatic gastrointestinal cancer taking PHYCOCARE® during oxaliplatin-based chemotherapy.
- Published in:
- Trials, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13063-023-07071-z
- By:
- Publication type:
- Article
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 359, doi. 10.1002/acn3.51281
- By:
- Publication type:
- Article
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
- Published in:
- Frontiers in Pharmacology, 2016, v. 6, p. 1, doi. 10.3389/fphar.2015.00314
- By:
- Publication type:
- Article
Physiological and pathophysiological insights of Nav1.4 and Nav1.5 comparison.
- Published in:
- Frontiers in Pharmacology, 2015, v. 6, p. 1, doi. 10.3389/fphar.2015.00314
- By:
- Publication type:
- Article
Diagnosis and management of Becker muscular dystrophy: the French guidelines.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 10, p. 4763, doi. 10.1007/s00415-023-11837-5
- By:
- Publication type:
- Article
Heterogeneous pattern of autonomic dysfunction in Parkinson’s disease.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 4, p. 933, doi. 10.1007/s00415-018-8789-8
- By:
- Publication type:
- Article
Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 10, p. 3265, doi. 10.1111/ene.15937
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease.
- Published in:
- Movement Disorders, 2021, v. 36, n. 4, p. 1034, doi. 10.1002/mds.28487
- By:
- Publication type:
- Article
RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
- Published in:
- Movement Disorders, 2021, v. 36, n. 3, p. 771, doi. 10.1002/mds.28371
- By:
- Publication type:
- Article
Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 970, doi. 10.1002/humu.23531
- By:
- Publication type:
- Article
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 556, doi. 10.1002/humu.23189
- By:
- Publication type:
- Article
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0201004
- By:
- Publication type:
- Article
Efficacy of intermittent Theta Burst Stimulation (iTBS) and 10-Hz high-frequency repetitive transcranial magnetic stimulation (rTMS) in treatment-resistant unipolar depression: study protocol for a randomised controlled trial.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Meta-analysis of muscle transcriptome data using the MADMuscle database reveals biologically relevant gene patterns.
- Published in:
- BMC Genomics, 2011, v. 12, p. 1, doi. 10.1186/1471-2164-12-113
- By:
- Publication type:
- Article
Meta-analysis of muscle transcriptome data using the MADMuscle database reveals biologically relevant gene patterns.
- Published in:
- BMC Genomics, 2011, v. 12, n. 1, p. 113, doi. 10.1186/1471-2164-12-113
- By:
- Publication type:
- Article
Motor cortex stimulation in refractory pelvic and perineal pain: Report of two successful cases.
- Published in:
- Neurourology & Urodynamics, 2013, v. 32, n. 1, p. 53, doi. 10.1002/nau.22269
- By:
- Publication type:
- Article
Delayed-onset Friedreich's ataxia revisited.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Electrodiagnostic subtyping in Guillain‐Barré syndrome: Use of criteria in practice based on a survey study in IGOS.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 3, p. 197, doi. 10.1111/jns.12504
- By:
- Publication type:
- Article
Algomania by Henry Lemesle.
- Published in:
- European Journal of Pain, 2021, v. 25, n. 1, p. 269, doi. 10.1002/ejp.1684
- By:
- Publication type:
- Article
Facilitation of motor evoked potentials: Timing of jendrassik maneuver effects.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. 12, p. 1427, doi. 10.1002/mus.880181213
- By:
- Publication type:
- Article
Letters to te editor.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. 10, p. 1214, doi. 10.1002/mus.880181022
- By:
- Publication type:
- Article
Central nervous system involvement in multifocal demyelinating neuropathy with persistent conduction block.
- Published in:
- Muscle & Nerve, 1994, v. 17, n. 11, p. 1278, doi. 10.1002/mus.880171106
- By:
- Publication type:
- Article
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL<sup>TM</sup>3.0DMDfv).
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04153-4
- By:
- Publication type:
- Article