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Lupo, Vincenzo
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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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

A very mild phenotype of Charcot-Marie-Tooth disease type 4..:

Argente-Escrig, Herminia ; Sánchez-Monteagudo, Ana ; Frasquet, Marina...
Journal of the Neurological Sciences.  402 (2019)  - p. 156-161 , 2019
Link: https://doi.org/10.1016/..
 
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15

Cover Image, Volume 39, Issue 3:

Abbott, Jamie A. ; Meyer-Schuman, Rebecca ; Lupo, Vincenzo...
Human Mutation.  39 (2018)  3 - p. i-i , 2018
Link: https://doi.org/10.1002/..
 
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