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Lupo, Vincenzo
198
results:
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Online (198)
Mediatypes
Articles (Online) (65)
Bookchapter (Online) (3)
OpenAccess-fulltext (129)
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english (172)
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?
1
Distal hereditary motor neuronopathy as a new phenotype ass..:
de Fuenmayor-Fernández de la Hoz, Carlos Pablo
;
Lupo, Vincenzo
;
Bermejo-Guerrero, Laura
...
Journal of Neurology. , 2023
Link:
https://doi.org/10.1007/..
?
2
Genetic Heterogeneity Underlying Phenotypes with Early-Onse..:
Martínez-Rubio, Dolores
;
Hinarejos, Isabel
;
Argente-Escrig, Herminia
...
International Journal of Molecular Sciences. 24 (2023) 22 - p. 16400 , 2023
Link:
https://doi.org/10.3390/..
?
3
Mutations, Genes, and Phenotypes Related to Movement Disord..:
Martínez-Rubio, Dolores
;
Hinarejos, Isabel
;
Sancho, Paula
...
International Journal of Molecular Sciences. 23 (2022) 19 - p. 11847 , 2022
Link:
https://doi.org/10.3390/..
?
4
A novel TRMT5 mutation causes a complex inherited neuropath..:
Argente‐Escrig, Herminia
;
Vílchez, Juan J.
;
Frasquet, Marina
...
Neuropathology and Applied Neurobiology. 48 (2022) 5 - p. , 2022
Link:
https://doi.org/10.1111/..
?
5
Pediatric inherited peripheral neuropathy: a prospective st..:
Argente‐Escrig, Herminia
;
Frasquet, Marina
;
Vázquez‐Costa, Juan Francisco
...
Annals of Clinical and Translational Neurology. 8 (2021) 9 - p. 1809-1816 , 2021
Link:
https://doi.org/10.1002/..
?
6
Distal hereditary motor neuropathies: Mutation spectrum and..:
Frasquet, Marina
;
Rojas‐García, Ricard
;
Argente‐Escrig, Herminia
...
European Journal of Neurology. 28 (2021) 4 - p. 1334-1343 , 2021
Link:
https://doi.org/10.1111/..
?
7
Mutant PRPF8 Causes Widespread Splicing Changes in Spliceos..:
Arzalluz-Luque, Ángeles
;
Cabrera, Jose Luis
;
Skottman, Heli
...
Frontiers in Neuroscience. 15 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
8
Contributors:
, In:
Factors Affecting Neurodevelopment
,
Albert, Mareike
;
Álvarez-Zaragoza, C.
;
Angulo, Brenda
... - p. xxi-xxv , 2021
Link:
https://doi.org/10.1016/..
?
9
Expanding the β-III Spectrin-Associated Phenotypes toward N..:
Sancho, Paula
;
Andrés-Bordería, Amparo
;
Gorría-Redondo, Nerea
...
International Journal of Molecular Sciences. 22 (2021) 5 - p. 2505 , 2021
Link:
https://doi.org/10.3390/..
?
10
Hereditary motor neuropathies and overlapping conditions:
, In:
Factors Affecting Neurodevelopment
,
Lupo, Vincenzo
;
Sancho, Paula
;
Espinós, Carmen
- p. 3-14 , 2021
Link:
https://doi.org/10.1016/..
?
11
Charcot–Marie–Tooth disease due to MORC2 mutations in Spain:
Sivera, Rafael
;
Lupo, Vincenzo
;
Frasquet, Marina
...
European Journal of Neurology. 28 (2021) 9 - p. 3001-3011 , 2021
Link:
https://doi.org/10.1111/..
?
12
Genetics of Wilson disease and Wilson‐like phenotype in a c..:
Sánchez‐Monteagudo, Ana
;
Álvarez‐Sauco, María
;
Sastre, Isabel
...
Clinical Genetics. 97 (2020) 5 - p. 758-763 , 2020
Link:
https://doi.org/10.1111/..
?
13
Impaired proteasome activity and neurodegeneration with bra..:
Correa‐Vela, Marta
;
Lupo, Vincenzo
;
Montpeyó, Marta
...
Annals of Clinical and Translational Neurology. 7 (2020) 8 - p. 1436-1442 , 2020
Link:
https://doi.org/10.1002/..
?
14
Characterization of molecular mechanisms underlying the axo..:
Sancho, Paula
;
Bartesaghi, Luca
;
Miossec, Olivia
...
Human Molecular Genetics. 28 (2019) 10 - p. 1629-1644 , 2019
Link:
https://doi.org/10.1093/..
?
15
PLA2G6-associated neurodegeneration: New insights into brai..:
Darling, Alejandra
;
Aguilera-Albesa, Sergio
;
Tello, Cristina Aisha
...
Parkinsonism & Related Disorders. 61 (2019) - p. 179-186 , 2019
Link:
https://doi.org/10.1016/..
1-15