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Corral‐Juan, Marc
19  Ergebnisse:
Personensuche X
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1

Ataxia and Action Myoclonus Related to Novel Mutations in A..:

Manrique, Leire ; Sánchez‐Rodríguez, Antonio ; Pelayo‐Negro, Ana L....
Movement Disorders Clinical Practice.  8 (2021)  6 - p. 969-971 , 2021
Link: https://doi.org/10.1002/..
 
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2

POLR3A-related spastic ataxia: new mutations and a look int..:

Infante, Jon ; Serrano-Cárdenas, Karla M. ; Corral‐Juan, Marc...
Journal of Neurology.  267 (2019)  2 - p. 324-330 , 2019
Link: https://doi.org/10.1007/..
 
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3

Novel genotype–phenotype correlations, differential cerebel..:

Sanchez-Flores, Marina ; Corral-Juan, Marc ; Gasch-Navalón, Esther...
Human Genetics.  143 (2024)  3 - p. 211-232 , 2024
Link: https://doi.org/10.1007/..
 
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4

Machado-Joseph disease in a Sudanese family links East Afri..:

Martins, Sandra ; Yahia, Ashraf ; Costa, Inês P. D....
Human Genetics.  142 (2023)  12 - p. 1747-1754 , 2023
Link: https://doi.org/10.1007/..
 
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5

New spinocerebellar ataxia subtype caused bySAMD9Lmutation ..:

Corral-Juan, Marc ; Casquero, Pilar ; Giraldo-Restrepo, Natalia...
Brain Communications.  4 (2022)  2 - p. , 2022
Link: https://doi.org/10.1093/..
 
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6

A novel SGCE variant is associated with myoclonus-dystonia ..:

Delgado-Alvarado, Manuel ; Matilla-Dueñas, Antoni ; Altadill-Bermejo, Antonio...
Neurological Sciences.  41 (2020)  12 - p. 3779-3781 , 2020
Link: https://doi.org/10.1007/..
 
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7

Perrault syndrome with neurological features in a compound ..:

Domínguez-Ruiz, María ; García-Martínez, Alberto ; Corral-Juan, Marc...
Journal of Translational Medicine.  17 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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8

Cognitive characterization of SCAR10 caused by a homozygous..:

Nieto, Antonieta ; Pérez-Flores, Javier ; Corral-Juan, Marc...
Neurocase.  25 (2019)  5 - p. 195-201 , 2019
Link: https://doi.org/10.1080/..
 
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9

Clinical, genetic and neuropathological characterization of..:

Corral-Juan, Marc ; Serrano-Munuera, Carmen ; Rábano, Alberto...
Brain.  141 (2018)  7 - p. 1981-1997 , 2018
Link: https://doi.org/10.1093/..
 
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10

New ATP8A2 gene mutations associated with a novel syndrome:..:

Martín-Hernández, Elena ; Rodríguez-García, María Elena ; Camacho, Ana...
neurogenetics.  17 (2016)  4 - p. 259-263 , 2016
Link: https://doi.org/10.1007/..
 
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11

A novel function of Ataxin-1 in the modulation of PP2A acti..:

Sánchez, Ivelisse ; Piñol, Patricia ; Corral-Juan, Marc..
Human Molecular Genetics.  22 (2013)  17 - p. 3425-3437 , 2013
Link: https://doi.org/10.1093/..
 
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12

Genotype of an individual single nucleotide polymorphism re..:

Martin-Trujillo, Alex ; Iglesias-Platas, Isabel ; Coto, Eliecer...
Epigenetics.  6 (2011)  10 - p. 1236-1241 , 2011
Link: https://doi.org/10.4161/..
 
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13

Cellular and Molecular Pathways Triggering Neurodegeneratio..:

Matilla-Dueñas, Antoni ; Sánchez, Ivelisse ; Corral-Juan, Marc...
The Cerebellum.  9 (2009)  2 - p. 148-166 , 2009
Link: https://doi.org/10.1007/..
 
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14

Ataxia and Action Myoclonus Related to Novel Mutations in A..:

Manrique, Leire ; Sánchez‐Rodríguez, Antonio ; Pelayo‐Negro, Ana L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354080/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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15

New spinocerebellar ataxia subtype caused by SAMD9L mutatio..:

Corral-Juan, Marc ; Casquero, Pilar ; Giraldo-Restrepo, Natalia...
Ministerio de Economía y Competitividad PI14/00136.  , 2022
Link: https://ddd.uab.cat/reco..
 
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