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Auteur Attarian S |
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Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study
Thomas FP, Saporta M, Attarian S, et al.
Neurodegenerative disease management, 2020
Revue : Neurodegenerative disease management Titre : Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study Type de document : Article Auteurs : Thomas FP ; Saporta M ; Attarian S ; Sevilla T ; Mascaro RS ; Fabrizi GM ; Genovese F ; Gray A ; Bull S ; Tanesse D ; Rego M ; Moore A ; Hollett C ; Monteiro K ; Paoli X ; Llewellyn S ; Larkin M ; Boutalbi Y Editeur : England Année de publication : 22/10/2020 Langues : Anglais (eng) Lien associé : NCT03782883 Pubmed / DOI : Pubmed : 33086913 / DOI : 10.2217/nmt-2020-0044
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33086913 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report
Sansone VA, Walter MC, Attarian S, et al.
Journal of Neuromuscular Diseases, 2020
Revue : Journal of Neuromuscular Diseases Titre : Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report Type de document : Article Auteurs : Sansone VA ; Walter MC ; Attarian S ; Delstanche S ; Mercuri E ; Lochmuller H ; Neuwirth C ; Vazquez-Costa JF ; Kleinschnitz C ; Hagenacker T Editeur : Netherlands Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32538864 / DOI : 10.3233/JND-200534
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32538864 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP
Benquey T, Fockens E, Kouton L, et al.
Journal of Neuromuscular Diseases, 2020
Revue : Journal of Neuromuscular Diseases Titre : A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP Type de document : Article Auteurs : Benquey T ; Fockens E ; Kouton L ; Delmont E ; Martini N ; Lévy N ; Attarian S ; Bonello-Palot N Editeur : Netherlands Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32538861 / DOI : 10.3233/JND-190460
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32538861 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Quantitative assessment of sciatic nerve changes in Charcot-Marie-Tooth type 1A patients using magnetic resonance neurography
Fortanier E, Ogier AC, Delmont E, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Quantitative assessment of sciatic nerve changes in Charcot-Marie-Tooth type 1A patients using magnetic resonance neurography Type de document : Article Auteurs : Fortanier E ; Ogier AC ; Delmont E ; Lefebvre MN ; Viout P ; Guye M ; Bendahan D ; Attarian S Editeur : England Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32391944 / DOI : 10.1111/ene.14303
N° Profil MNM : 2020052 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32391944 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Cerino M, Campana-Salort E, Salvi A, et al.
Neuropathology and applied neurobiology, 2020
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Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, et al.
International Journal of molecular sciences, 2020, 21, 6
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Fat fraction distribution in lower limb muscles of patients with CMT1A: A quantitative MRI study
Bas J, Ogier AC, Le Troter A, et al.
Neurology, 2020
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Questions-Réponses sur Coronavirus COVID-19 et maladies neuromusculaires
Brissac M, Bled D, Duval F, et al.
2020, 8 p
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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network
Solé G, Salort-Campana E, Pereon Y, et al.
Revue neurologique, 2020, 176, 6, p 507
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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease
Mortreux J, Bacquet J, Boyer A, et al.
Journal of human genetics, 2019
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Le colloque annuel de la FSHD Society s’invite à Marseille : Marseille welcomes the FSHD Society International Research Conference
Magdinier F, Nguyen K, Attarian S
Les Cahiers de Myologie, 2019, 35, HS2, p 55
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Relabellisation de la Filière FILNEMUS : des objectifs ambitieux à l’horizon 2019-2023 : Renewal of Filnemus: ambitious goals for 2019-2023
Attarian S, Salort-Campana E
Les Cahiers de Myologie, 2019, 35, HS2, p 5
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Roche S, Dion C, Broucqsault N, et al.
Neurology. Genetics, 2019, 5, 6
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Nailfold videocapillaroscopy alterations in dermatomyositis, antisynthetase syndrome, overlap myositis, and immune-mediated necrotizing myopathy
Soubrier C, Seguier J, Di Costanzo MP, et al.
Clinical rheumatology, 2019
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Les chercheurs innovent sur tous les fronts ! : Researchers innovate on all fronts!
Brignol TN, Marion S, Attarian S
Les Cahiers de Myologie, 2019, 19, p 6
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A multicenter retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Pareyson D, Stojkovic T, Reilly MM, et al.
Annals of neurology, 2019, p 55
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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Palmio J, Leonard-Louis S, Sacconi S, et al.
Journal of neurology, 2019, 266, 3, p 680
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Hereditary neuropathy with liability to pressure palsies
Attarian S, Fatehi F, Rajabally YA, et al.
Journal of neurology, 2019
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Bacquet J, Stojkovic T, Boyer A, et al.
BMJ Open, 2018, 8, 10
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Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder
Duchesne M, Danigo A, Richard L, et al.
Journal of neuropathology and experimental neurology, 2018, 77, 4, p 274
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Les neuropathies périphériques : Des avancées thérapeutiques signficatives
Attarian S
Neurologies, 2018, 21, 208, p 126
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The utility of motor unit number index: A systematic review
Fatehi F, Fatehi F, Grapperon AM, et al.
Neurophysiologie clinique = Clinical neurophysiology, 2018, 48, 5, p 251
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Myopathie GNE : L'échec avéré de l'acide sialique ... et après ? : Essais cliniques
Marion S, Behin A, Attarian S
Les Cahiers de Myologie, 2017, 33, HS 1, p 55
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Table ronde multidisciplinaire : Congrès 2016
Attarian S, Bernard I, Billé M, et al.
CMTmag, 2017, 106, p 10
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