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Rendu, J.
1537  Ergebnisse:
Personensuche X
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1

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES:

Labasse, C. ; Brochier, G. ; Rendu, J....
Neuromuscular Disorders.  31 (2021)  - p. S59 , 2021
Link: https://doi.org/10.1016/..
 
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2

MYASTHENIA & RELATED DISORDERS:

Bauché, S. ; Sureau, A. ; Sternberg, D....
Neuromuscular Disorders.  30 (2020)  - p. S56-S57 , 2020
Link: https://doi.org/10.1016/..
 
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3

Clinical, functional and genetic characterization of 16 pat..:

Mollin, M ; Beaumel, S ; Vigne, B...
Clinical and Experimental Immunology.  203 (2020)  2 - p. 247-266 , 2020
Link: https://doi.org/10.1111/..
 
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4

P.243Dusty core disease (DuCD): a novel morphological hallm..:

Garibaldi, M. ; Rendu, J. ; Brocard, J....
Neuromuscular Disorders.  29 (2019)  - p. S137-S138 , 2019
Link: https://doi.org/10.1016/..
 
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5

CONGENITAL MYOPATHIES: GENERAL AND RYR1:

Garibaldi, M. ; Rendu, J. ; Brocard, J....
Neuromuscular Disorders.  28 (2018)  - p. S45 , 2018
Link: https://doi.org/10.1016/..
 
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6

STAC3 p.Trp284Ser associated with congenital myopathy with ..:

Zaharieva, I. ; Sarkozy, A. ; Manzur, A....
Neuromuscular Disorders.  27 (2017)  - p. S39 , 2017
Link: https://doi.org/10.1016/..
 
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7

Corrigendum to "22nd International Congress of the World Mu..:

Rendu, J. ; Bosson, C. ; Roux-Buisson, N....
Neuromuscular Disorders.  , 2017
Link: https://doi.org/10.1016/..
 
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8

Phenotype and genotype of muscle ryanodine receptor rhabdom..:

Witting, N. ; Laforêt, P. ; Voermans, N. C....
Acta Neurologica Scandinavica.  137 (2017)  5 - p. 452-461 , 2017
Link: https://doi.org/10.1111/..
 
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9

Morphological spectrum of RYR1 recessive myopathies: Clinic..:

Garibaldi, M. ; Rendu, J. ; Lacene, E....
Neuromuscular Disorders.  27 (2017)  - p. S239 , 2017
Link: https://doi.org/10.1016/..
 
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10

Further insights in nemaline myopathy (NM) with hyaline mas..:

Bevilacqua, J. ; Malfatti, E. ; Labasse, C....
Neuromuscular Disorders.  27 (2017)  - p. S183-S184 , 2017
Link: https://doi.org/10.1016/..
 
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11

A national French consensus on gene lists for NGS-based dia..:

Krahn, M. ; Biancalana, V. ; Michel-Calemard, L....
Neuromuscular Disorders.  27 (2017)  - p. S196 , 2017
Link: https://doi.org/10.1016/..
 
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12

Loss-of-function mutation of TRIP4 causes a novel form of c..:

Davignon, L. ; Chauveau, C. ; Julien, C....
Neuromuscular Disorders.  26 (2016)  - p. S118-S119 , 2016
Link: https://doi.org/10.1016/..
 
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13

ACTA1-related nemaline myopathy: Reappraisal of the histopa..:

Malfatti, E. ; Monges, S. ; Lornage, X....
Neuromuscular Disorders.  26 (2016)  - p. S133 , 2016
Link: https://doi.org/10.1016/..
 
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14

OCRL-mutated fibroblasts from patients with Dent-2 disease ..:

Montjean, R. ; Aoidi, R. ; Desbois, P....
Human Molecular Genetics.  24 (2014)  4 - p. 994-1006 , 2014
Link: https://doi.org/10.1093/..
 
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P.4.10 Exon skipping as a therapeutic strategy applied to a..:

Rendu, J. ; Brocard, J. ; Monnier, N....
Neuromuscular Disorders.  23 (2013)  9-10 - p. 762 , 2013
Link: https://doi.org/10.1016/..
 
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