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1 . Academic Journal
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
저자
by
Emmanuelle Salort-Campana
;
Guilhem Solé
;
Armelle Magot
;
Céline Tard
;
Jean-Baptiste Noury
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
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7 . Academic Journal
In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study
저자
by
Jérémie Sellam
;
Laurent Arnaud
;
Marta Mosca
;
Florenzo Iannone
;
Luca Diamanti
, et al.
소스
RMD Open, Vol 9, Iss 3 (2023)
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7 . Academic Journal
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
저자
by
Benoît Sanson
;
Caroline Stalens
;
Céline Guien
;
Luisa Villa
;
Catherine Eng
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
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7 . Academic Journal
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
저자
by
Lucie Isoline Pisella
;
Sara Fernandes
;
Guilhem Solé
;
Tanya Stojkovic
;
Céline Tard
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software
저자
by
Ioanna Pyromali
;
Alexandre Perani
;
Angélique Nizou
;
Nesrine Benslimane
;
Paco Derouault
, et al.
소스
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 4265-4272 (2021)
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7 . Academic Journal
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
저자
by
Raul Juntas Morales
;
Aurélien Perrin
;
Guilhem Solé
;
Delphine Lacourt
;
Henri Pegeot
, et al.
소스
Genes, Vol 12, Iss 8, p 1199 (2021)
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7 . Academic Journal
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death
저자
by
Arnaud Jacquier
;
Cécile Delorme
;
Edwige Belotti
;
Raoul Juntas-Morales
;
Guilhem Solé
, et al.
소스
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-15 (2017)
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7 . Academic Journal
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
저자
by
Elena Gargaun
;
Sestina Falcone
;
Guilhem Solé
;
Julien Durigneux
;
Andoni Urtizberea
, et al.
소스
Biomedicines, Vol 9, Iss 2, p 219 (2021)
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7 . Academic Journal
Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
저자
by
Emmanuelle Salort-Campana
;
Farzad Fatehi
;
Sadia Beloribi-Djefaflia
;
Stéphane Roche
;
Karine Nguyen
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 6, p 2221 (2020)
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7 . Academic Journal
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
저자
by
Celine Dogan
;
Marie De Antonio
;
Dalil Hamroun
;
Hugo Varet
;
Marianne Fabbro
, et al.
소스
PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)
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