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Orphanet Journal of Rare Diseases
|
February 15, 2019
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance
Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, et al.
Orphanet Journal of Rare Diseases
|
March 3, 2022
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
Benoît Sanson, Caroline Stalens, Céline Guien, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
July 5, 2015
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease
Antoine Dany, Coralie Barbe, Amandine Rapin, et al.
Journal of Neuromuscular Diseases
|
November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
Isabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
Plos One
|
April 11, 2015
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial
Andreea Mihaela Seferian, Amélie Moraux, Aurélie Canal, et al.
Journal of Medical Genetics
|
April 24, 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
Karine Nguyen, Natacha Broucqsault, Charlene Chaix, et al.
Plos One
|
February 3, 2015
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Andreea Mihaela Seferian, Amélie Moraux, Mélanie Annoussamy, et al.
Orphanet Journal of Rare Diseases
|
December 19, 2014
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
Shahram Attarian, Jean-Michel Vallat, Laurent Magy, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials
Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
European Heart Journal
|
March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data
Raphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
Orphanet Journal of Rare Diseases
|
February 15, 2019
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance
Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, et al.
Orphanet Journal of Rare Diseases
|
March 3, 2022
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
Benoît Sanson, Caroline Stalens, Céline Guien, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
July 5, 2015
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease
Antoine Dany, Coralie Barbe, Amandine Rapin, et al.
Journal of Neuromuscular Diseases
|
November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
Isabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
Plos One
|
April 11, 2015
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial
Andreea Mihaela Seferian, Amélie Moraux, Aurélie Canal, et al.
Journal of Medical Genetics
|
April 24, 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy
Karine Nguyen, Natacha Broucqsault, Charlene Chaix, et al.
Plos One
|
February 3, 2015
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Andreea Mihaela Seferian, Amélie Moraux, Mélanie Annoussamy, et al.
Orphanet Journal of Rare Diseases
|
December 19, 2014
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
Shahram Attarian, Jean-Michel Vallat, Laurent Magy, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials
Véronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.
European Heart Journal
|
March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data
Raphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
Page
of 4