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Urtizberea, J. Andoni
251  results:
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1

Obituary: Professor Annie Barois (1930-2024):

Romero, Norma Beatriz ; Urtizberea, J. Andoni ; Quijano-Roy, Susana
Neuromuscular Disorders.  38 (2024)  - p. 42-43 , 2024
Link: https://doi.org/10.1016/..
 
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2

Loss-of-function OGFRL1 variants identified in autosomal re..:

Kittaka, Mizuho ; Mizuno, Noriyoshi ; Morino, Hiroyuki...
JBMR Plus.  8 (2024)  6 - p. , 2024
Link: https://doi.org/10.1093/..
 
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3

Impact of restricted access to, and low awareness of, mexil..:

Díaz-Manera, Jordi ; Urtizberea, J. Andoni ; Schey, Carina...
Neuromuscular Disorders.  33 (2023)  2 - p. 208-217 , 2023
Link: https://doi.org/10.1016/..
 
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4

Gene therapies in pediatrics:

Andoni Urtizberea, J.
Archives de Pédiatrie.  30 (2023)  8 - p. 8S1 , 2023
Link: https://doi.org/10.1016/..
 
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5

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from D..:

Jaxybayeva, Altynshash ; Chunkayeva, Dana ; Myrzaliyeva, Bakhytkul...
Journal of Neuromuscular Diseases.  10 (2023)  2 - p. 263-269 , 2023
Link: https://doi.org/10.3233/..
 
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6

The new missense G376V-TDP-43 variant induces late-onset di..:

Zibold, Julia ; Lessard, Lola E R ; Picard, Flavien...
Brain.  147 (2023)  5 - p. 1768-1783 , 2023
Link: https://doi.org/10.1093/..
 
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7

A 20-year Clinical and Genetic Neuromuscular Cohort Analysi..:

Megarbane, Andre ; Bizzari, Sami ; Deepthi, Asha...
Journal of Neuromuscular Diseases.  9 (2022)  1 - p. 193-210 , 2022
Link: https://doi.org/10.3233/..
 
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8

Genetic Profile of Patients with Limb-Girdle Muscle Weaknes..:

Cerino, Mathieu ; González-Hormazábal, Patricio ; Abaji, Mario...
Genes.  13 (2022)  6 - p. 1076 , 2022
Link: https://doi.org/10.3390/..
 
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9

STAC3 related congenital myopathy: A case series of seven C..:

Gromand, Marie ; Gueguen, Paul ; Pervillé, Anne...
European Journal of Medical Genetics.  65 (2022)  10 - p. 104598 , 2022
Link: https://doi.org/10.1016/..
 
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10

La myologie en temps de guerre…:

Andoni Urtizberea, J.
Les Cahiers de Myologie.  , 2022
Link: https://doi.org/10.1051/..
 
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11

Pandémie et soutien aux malades neuromusculaires : et si on..:

Merret, Géraldine ; Talbi, Benjamin ; Solé, Guilhem..
Les Cahiers de Myologie.  , 2022
Link: https://doi.org/10.1051/..
 
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12

Honneur aux femmes !:

Andoni Urtizberea, J.
Les Cahiers de Myologie.  , 2022
Link: https://doi.org/10.1051/..
 
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13

High-Throughput Digital Image Analysis Reveals Distinct Pat..:

Torelli, Silvia ; Scaglioni, Domenic ; Sardone, Valentina...
Journal of Neuropathology & Experimental Neurology.  80 (2021)  10 - p. 955-965 , 2021
Link: https://doi.org/10.1093/..
 
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14

The lncRNA 44s2 Study Applicability to the Design of 45-55 ..:

Gargaun, Elena ; Falcone, Sestina ; Solé, Guilhem...
Biomedicines.  9 (2021)  2 - p. 219 , 2021
Link: https://doi.org/10.3390/..
 
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15

INPP5K and SIL1 associated pathologies with overlapping cli..:

Hathazi, Denisa ; Cox, Dan ; D'Amico, Adele...
Brain.  144 (2021)  8 - p. 2427-2442 , 2021
Link: https://doi.org/10.1093/..
 
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