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Jou, C.
659  Ergebnisse:
Personensuche X
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P406 Identification of a deep-intronic variant that results..:

Estévez-Arias, B. ; Yépez, V. ; Ortez, C....
Neuromuscular Disorders.  33 (2023)  - p. S125 , 2023
Link: https://doi.org/10.1016/..
 
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P181 Trio genome analysis in 45 unsolved children with neur..:

De Benito, D Natera ; Estevez-Arias, B. ; Matalonga, L....
Neuromuscular Disorders.  33 (2023)  - p. S110 , 2023
Link: https://doi.org/10.1016/..
 
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3

P268 Decoding the transcriptome of Duchenne muscular dystro..:

Diaz-Manera, J. ; Suarez-Calvet, X. ; Fernández-Simón, E....
Neuromuscular Disorders.  33 (2023)  - p. S149-S150 , 2023
Link: https://doi.org/10.1016/..
 
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P187 ZC4H2 X linked gene mutations: phenotypic spectrum of ..:

Alvarenga, N. ; Saez, V. ; Lotz, S....
Neuromuscular Disorders.  33 (2023)  - p. S112 , 2023
Link: https://doi.org/10.1016/..
 
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5

FP.36 Genetic variants in DTNA cause a mild dominantly inhe..:

Nascimento, A. ; Bruels, C. ; Codina, A....
Neuromuscular Disorders.  32 (2022)  - p. S113 , 2022
Link: https://doi.org/10.1016/..
 
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P.152 The novel ANXA11 variant p.Asp40Ile in a childhood-on..:

Natera-de Benito, D. ; Olival, J. ; Garcia-Cabau, C....
Neuromuscular Disorders.  32 (2022)  - p. S109 , 2022
Link: https://doi.org/10.1016/..
 
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7

HEREDITARY NEUROPATHIES & ALS:

Natera, D. ; Sola, A. ; Boronat, S....
Neuromuscular Disorders.  30 (2020)  - p. S78 , 2020
Link: https://doi.org/10.1016/..
 
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8

Gliomatosis cerebri and Rasmussen's encephalitis: Two diffe..:

Andermatten, J.A. ; Candela-Cantó, S. ; Jou, C....
Neurochirurgie.  66 (2020)  4 - p. 266-269 , 2020
Link: https://doi.org/10.1016/..
 
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9

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MY..:

Ortez, C. ; Carrera, L. ; Exposito, J....
Neuromuscular Disorders.  30 (2020)  - p. S49-S50 , 2020
Link: https://doi.org/10.1016/..
 
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LIPID MYOPATHIES:

Natera-de Benito, D. ; Carrera, L. ; Ortez, C....
Neuromuscular Disorders.  29 (2019)  - p. S65-S66 , 2019
Link: https://doi.org/10.1016/..
 
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11

EP.101Clinical, histopathological and molecular characteriz..:

Natera de Benito, D. ; Jou, C. ; Jimenez-Mallebrera, C....
Neuromuscular Disorders.  29 (2019)  - p. S182 , 2019
Link: https://doi.org/10.1016/..
 
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12

P.168Clinical spectrum and histopathological characterizati..:

Bobadilla, E. ; Codina, A. ; Jou, C....
Neuromuscular Disorders.  29 (2019)  - p. S97 , 2019
Link: https://doi.org/10.1016/..
 
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13

LIMB GIRDLE MUSCULAR DYSTROPHIES:

Bobadilla, E. ; Julia, N. ; Jimenez-Mallebrera, C....
Neuromuscular Disorders.  29 (2019)  - p. S97 , 2019
Link: https://doi.org/10.1016/..
 
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14

P.242Phenotypic variability in a cohort of patients with TT..:

Natera de Benito, D. ; Jou, C. ; Jimenez-Mallebrera, C....
Neuromuscular Disorders.  29 (2019)  - p. S137 , 2019
Link: https://doi.org/10.1016/..
 
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15

P.176Limb-girdle muscular dystrophies (LGMD) C, D and E: lo..:

Ortez, C. ; Martinez, A. ; Carrera, L....
Neuromuscular Disorders.  29 (2019)  - p. S100 , 2019
Link: https://doi.org/10.1016/..
 
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