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Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
Arnaud Blanchard
,
Agathe Roubertie
,
Marion Simonetta-Moreau
,
Vuthy Ea
,
Coline Coquart
,
et al.
Article dans une revue
istex
hal-01670065v1
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Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene
Aliya Ishmukhametova
,
Philippe Khau van Kien
,
Deborah Mechin
,
Delphine Thorel
,
Marie-Claire Vincent
,
et al.
Article dans une revue
hal-02444080v1
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A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene
Caroline Raynal
,
David Baux
,
Corinne Thèze
,
Corinne Bareil
,
Magali Taulan
,
et al.
Article dans une revue
istex
hal-02441699v1
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Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Luca Bello
,
Kevin Flanigan
,
Robert Weiss
,
Pietro Spitali
,
Annemieke Aartsma-Rus
,
et al.
Article dans une revue
hal-02436506v1
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Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Mélissa Yana Frédéric
,
Fabienne Clot
,
Laura Cif
,
Arnaud Blanchard
,
Alexandra Dürr
,
et al.
Article dans une revue
inserm-00343965v1
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Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study
Laura Cif
,
Xavier Vasques
,
Victoria Gonzalez
,
Patrice Ravel
,
Brigitte Biolsi
,
et al.
Article dans une revue
hal-01669958v1
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Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials
Véronique Humbertclaude
,
Dalil Hamroun
,
Kamel Bezzou
,
Carole Bérard
,
Odile Boespflug-Tanguy
,
et al.
Article dans une revue
istex
hal-01681808v1
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First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene
Julie Miro
,
Anne-Laure Bougé
,
Eva Murauer
,
Emmanuelle Beyne
,
Dylan da Cunha
,
et al.
Article dans une revue
hal-03234304v1
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The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”
Heather Howard
,
Ourania Horaitis
,
Richard G.H. Cotton
,
Mauno Vihinen
,
Raymond Dalgleish
,
et al.
Article dans une revue
hal-02446664v1
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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
Catherine Bladen
,
Karen Rafferty
,
Volker Straub
,
Soledad Monges
,
Angélica Moresco
,
et al.
Article dans une revue
istex
hal-01681801v1
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Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Christophe Béroud
,
Sylvie Tuffery-Giraud
,
Masafumi Matsuo
,
Dalil Hamroun
,
Véronique Humbertclaude
,
et al.
Article dans une revue
istex
inserm-00381940v1
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An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.
A. Disset
,
C. F. Bourgeois
,
N. Benmalek
,
M. Claustres
,
J. Stevenin
,
et al.
Article dans une revue
hal-00187889v1
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
Janneke van den Bergen
,
Monika Hiller
,
Stefan Böhringer
,
Linda Vijfhuizen
,
Hendrika Ginjaar
,
et al.
Article dans une revue
hal-02436450v1
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Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay
Julie Miro
,
Cyril F. Bourgeois
,
Mireille Claustres
,
Michel Koenig
,
Sylvie Tuffery-Giraud
Article dans une revue
hal-02350943v1
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Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis
Jennifer Bonini
,
Jessica Varilh
,
Caroline Raynal
,
Corinne Thèze
,
Emmanuelle Beyne
,
et al.
Article dans une revue
hal-02434833v1
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Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
Sandie Le Guédard-Méreuze
,
Christel Vache
,
David Baux
,
Valérie Faugère
,
Lise Larrieu
,
et al.
Article dans une revue
istex
hal-02444172v1
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The p.Asp216His TOR1A allele effect is not found in the French population.
Mélissa Yana Frédéric
,
Fabienne Clot
,
Arnaud Blanchard
,
Claire-Marie Dhaenens
,
Gaetan Lesca
,
et al.
Article dans une revue
inserm-00396259v1
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Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data
Raphaël Porcher
,
Isabelle Desguerre
,
Helge Amthor
,
Brigitte Chabrol
,
Frédérique Audic
,
et al.
Article dans une revue
hal-03179750v1
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Non-USH2A mutations in USH2 patients.
Thomas Besnard
,
Christel Vaché
,
David Baux
,
Lise Larrieu
,
Caroline Abadie
,
et al.
Article dans une revue
inserm-00650795v1
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Normal and altered pre-mRNA processing in the DMD gene
Sylvie Tuffery-Giraud
,
Julie Miro
,
Michel Koenig
,
Mireille Claustres
Article dans une revue
hal-01760830v1
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First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
Mélissa y Frédéric
,
Estelle Lucarz
,
Christine Monino
,
Céline Saquet
,
Delphine Thorel
,
et al.
Article dans une revue
istex
inserm-00143113v2
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Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle
Anne-Laure Bouge
,
Eva Murauer
,
Emmanuelle Beyne
,
Julie Miro
,
Jessica Varilh
,
et al.
Article dans une revue
hal-01792956v1
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Sequence Contexts That Determine the Pathogenicity of Base Substitutions at Position+3 of Donor Splice-Sites
S. Le Guedard-Mereuze
,
C. Vache
,
Nicolas Molinari
,
J. Vaudaine
,
M. Claustres
,
et al.
Article dans une revue
hal-02665802v1
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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
Cécile Rouzier
,
Sandie Le Guédard-Méreuze
,
Konstantina Fragaki
,
Valérie Serre
,
Julie Miro
,
et al.
Article dans une revue
hal-00557375v1
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FUBP1: a new protagonist in splicing regulation of the DMD gene
J. Miro
,
A. M. Laaref
,
V. Rofidal
,
R. Lagrafeuille
,
S. Hem
,
et al.
Article dans une revue
hal-01279092v1
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The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation
Dylan da Cunha
,
Julie Miro
,
Charles van Goethem
,
Cécile Notarnicola
,
Gérald Hugon
,
et al.
Article dans une revue
hal-04518672v1
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Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
Annemieke Aartsma-Rus
,
Madhuri Hegde
,
Tawfeg Ben-Omran
,
Filippo Buccella
,
Alessandra Ferlini
,
et al.
Article dans une revue
hal-02438933v1
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Becker muscular dystrophy severity is linked to the structure of dystrophin.
Aurélie Nicolas
,
Céline Raguénès-Nicol
,
Rabah Ben Yaou
,
Sarah Ameziane-Le Hir
,
Angélique Chéron
,
et al.
Article dans une revue
hal-01117005v1
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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Mehdi Benkirane
,
Dylan da Cunha
,
Cecilia Marelli
,
Lise Larrieu
,
Mathilde Renaud
,
et al.
Article dans une revue
hal-03750598v1
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Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
Stephen Abbs
,
Sylvie Tuffery-Giraud
,
Egbert Bakker
,
Alessandra Ferlini
,
Thomas Sejersen
,
et al.
Article dans une revue
hal-02446658v1
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