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Lupo, Vincenzo
129  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

Genetic Heterogeneity Underlying Phenotypes with Early-Onse..:

Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Argente-Escrig, Herminia...
doi:10.3390/ijms242216400.  , 2023
Link: http://hdl.handle.net/10..
 
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2

Mutations, Genes, and Phenotypes Related to Movement Disord..:

Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Sancho, Paula...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570320/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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3

A novel TRMT5 mutation causes a complex inherited neuropath..:

Argente-Escrig, Herminia ; Vílchez, Juan Jesús ; Frasquet, Marina...
#PLACEHOLDER_PARENT_METADATA_VALUE#.  , 2022
Link: http://hdl.handle.net/10..
 
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4

Mutations, Genes, and Phenotypes Related to Movement Disord..:

Martínez Rubio, Dolores ; Hinarejos, Isabel ; Sancho, Paula...
info:eu-repo/grantAgreement/MICIU/FPU15/00964.  , 2022
Link: http://hdl.handle.net/10..
 
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5

Mutations, Genes, and Phenotypes Related to Movement Disord..:

Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Sancho, Paula...
#PLACEHOLDER_PARENT_METADATA_VALUE#.  , 2022
Link: http://hdl.handle.net/10..
 
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6

Mutations, Genes, and Phenotypes Related to Movement Disord..:

Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Sancho, Paula...
http://hdl.handle.net/10668/21202.  , 2022
Link: http://hdl.handle.net/10..
 
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7

Mutant PRPF8 Causes Widespread Splicing Changes in Spliceos..:

Arzalluz-Luque, Ángeles ; Cabrera, Jose Luis ; Skottman, Heli...
636969.  , 2021
Link: https://trepo.tuni.fi/ha..
 
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8

NR4A2 Mutations Can Cause Intellectual Disability and Langu..:

Jesús, Silvia ; Hinarejos, Isabel ; Carrillo, Fátima...
Ministerio de Economía y Competitividad SAF2007-60700.  , 2021
Link: https://ddd.uab.cat/reco..
 
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9

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain:

Sivera, Rafael ; Lupo, Vincenzo ; Frasquet, Marina...
Ministerio de Economía y Competitividad PI16/00403.  , 2021
Link: https://ddd.uab.cat/reco..
 
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10

Expanding the β-III Spectrin-Associated Phenotypes toward N..:

Sancho, Paula ; Andrés-Bordería, Amparo ; Gorría-Redondo, Nerea...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958857/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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11

Pediatric inherited peripheral neuropathy: a prospective st..:

Argente‐Escrig, Herminia ; Frasquet, Marina ; Vázquez‐Costa, Juan Francisco...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8419398/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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12

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain:

Sivera, Rafael ; Lupo, Vincenzo ; Frasquet, Marina...
http://hdl.handle.net/10668/18057.  , 2021
Link: http://hdl.handle.net/10..
 
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13

Clinical rating scale for pantothenate kinase-associated ne..:

Darling, Alejandra ; Tello, Cristina ; Martí, María Josep...
Movement Disorders, Vol. 32, No. 11, 2017, p 1620-1630.  , 2021
Link: http://hdl.handle.net/10..
 
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14

Expanding the β-III Spectrin-Associated Phenotypes toward N..:

Sancho, Paula ; Andrés-Bordería, Amparo ; Gorría-Redondo, Nerea...
Instituto de Salud Carlos III PI18/00147.  , 2021
Link: https://ddd.uab.cat/reco..
 
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15

Mutant PRPF8 Causes Widespread Splicing Changes in Spliceos..:

Arzalluz-Luque, Ángeles ; Cabrera, Jose Luis ; Skottman, Heli...
https://doi.org/10.3389/fnins.2021.636969.  , 2021
Link: http://hdl.handle.net/10..
 
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