|
🐜
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A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
21 auth.
A. Navarro-Sastre,
F. Tort,
O. Stehling,
Marta A. Uzarska,
J. A. Arranz,
Mireia del Toro,
M. Labayru,
J. Landa,
A. Font,
J. García-Villoria,
...
B. Merinero,
M. Ugarte,
L. Gutiérrez-Solana,
J. Campistol,
À. García-Cazorla,
J. Vaquerizo,
E. Riudor,
P. Briones,
O. Elpeleg,
A. Ribes,
R. Lill
|
8 |
2011 |
8
🐜
|
|
🐜
|
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
20 auth.
R. Li,
Anne B. Johnson,
G. Salomons,
J. Goldman,
S. Naidu,
R. Quinlan,
Bruce A. C. Cree,
S. Ruyle,
B. Banwell,
M. D’hooghe,
...
J. Siebert,
Cristin M. Rolf,
H. Cox,
A. Reddy,
L. Gutiérrez-Solana,
A. Collins,
R. Weller,
A. Messing,
M. S. van der Knaap,
M. Brenner
|
7 |
2005 |
7
🐜
|
|
🐜
|
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
9 auth.
Miguel Ángel Martín,
A. Blázquez,
L. Gutiérrez-Solana,
Daniel Fernández‐Moreira,
P. Briones,
A. Andreu,
...
R. Garesse,
Y. Campos,
J. Arenas
|
6 |
2005 |
6
🐜
|
|
🐜
|
Clinical, polysomnographic and laboratory characteristics of narcolepsy-cataplexy in a sample of children and adolescents.
9 auth.
R. Peraita-Adrados,
J. García-Peñas,
Luz Ruiz-Falcó,
L. Gutiérrez-Solana,
P. López-Esteban,
J. Vicario,
...
S. Miano,
Manuel Aparicio-Meix,
M. Martínez-Sopena
|
5 |
2011 |
5
🐜
|
|
🐜
|
Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option
20 auth.
B. Pérez,
L. Gutiérrez-Solana,
A. Verdú,
B. Merinero,
P. Yuste-Checa,
P. Ruiz-Sala,
Rocío Calvo,
A. Jalan,
L. L. Marín,
O. Campos,
...
M. A. Ruiz,
M. S. Miguel,
M. Vázquez,
M. Castro,
Isaac Ferrer,
R. Navarrete,
L. Desviat,
P. Lapunzina,
M. Ugarte,
C. Pérez‐Cerdá
|
5 |
2013 |
5
🐜
|
|
🐜
|
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients
25 auth.
A. Fernández‐Marmiesse,
Iria Roca,
Felicitas Díaz-Flores,
V. Cantarín,
M. Pérez-Poyato,
A. Fontalba,
F. Laranjeira,
Sofia Quintans,
O. Moldovan,
B. Felgueroso,
Montserrat Rodríguez-Pedreira,
R. Simón,
A. Camacho,
P. Quijada,
Salvador Ibáñez-Micó,
...
Mª Rosario Domingno,
Carmen Benito,
Rocío Calvo,
A. Pérez‐Cejas,
M. Carrasco,
F. Ramos,
M. Couce,
M. Ruiz-Falcó,
L. Gutiérrez-Solana,
Margarita Martínez-Atienza
|
5 |
2019 |
5
🐜
|
|
🐜
|
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).
8 auth.
C. Alcalde-Martín,
J. M. Muro-Tudelilla,
R. Cancho-Candela,
L. Gutiérrez-Solana,
Guillem Pintos-Morell,
M. Martí-Herrero,
...
P. Munguira-Aguado,
Enrique Galán‐Gómez
|
5 |
2010 |
5
🐜
|
|
🐜
|
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
20 auth.
Mercè Izquierdo-Serra,
A. Martínez-Monseny,
L. López,
Julia Carrillo-Garcia,
Albert Edo,
J. Ortigoza‐Escobar,
Óscar García,
R. Cancho-Candela,
M. L. Carrasco-Marina,
L. Gutiérrez-Solana,
...
D. Cuadras,
J. Muchart,
R. Montero,
R. Artuch,
C. Pérez‐Cerdá,
B. Pérez,
B. Pérez-Dueñas,
A. Macaya,
J. Fernández-Fernández,
M. Serrano
|
5 |
2018 |
5
🐜
|
|
🐜
|
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
14 auth.
Luisa Arrabal,
L. Teresa,
R. Sánchez‐Alcudia,
M. Castro,
C. Medrano,
L. Gutiérrez-Solana,
S. Roldán,
A. Ormazabal,
C. Pérez‐Cerdá,
B. Merinero,
...
B. Pérez,
R. Artuch,
M. Ugarte,
L. Desviat
|
5 |
2011 |
5
🐜
|
