|
🐜
|
Heterozygous CAPN3 missense variants causing autosomal‐dominant calpainopathy in seven unrelated families
25 auth.
L. González-Mera,
G. Ravenscroft,
M. Cabrera-Serrano,
Natalia Ermolova,
C. Domínguez-González,
Ana Arteche-López,
Payam Soltanzadeh,
F. Evesson,
Carlos Navas,
F. Mavillard,
Joshua S Clayton,
Patricia Rodrigo,
E. Servian-Morilla,
Sandra T Cooper,
Leigh B Waddell,
...
Katrina Reardon,
Alistair Corbett,
A. Hernández-Laín,
Ana Sanchez,
J. Esteban Pérez,
Carmen Paradas-Lopez,
E. Rivas-Infante,
Melissa J. Spencer,
Nigel G. Laing,
Montse Olivé
|
4 |
2020 |
4
🐜
|
|
🐜
|
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations
8 auth.
Luísa Panadés-de Oliveira,
C. Rodríguez-López,
D. Cantero Montenegro,
M. Marcos Toledano,
A. Fernández‐Marmiesse,
J. Esteban Pérez,
...
A. Hernández Laín,
C. Domínguez-González
|
4 |
2019 |
4
🐜
|
|
🐜
|
Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
17 auth.
J. Vázquez-Costa,
D. Borrego-Hernández,
C. Paradas,
M. Gómez-Caravaca,
R. Rojas‐García,
Luís Varona,
M. Povedano,
T. García-Sobrino,
I. Jericó Pascual,
Antonio J Gutiérrez,
...
J. Riancho,
J. Turon-Sans,
A. Assialioui,
J. Pérez-Tur,
T. Sevilla,
J. Esteban Pérez,
A. García-Redondo
|
2 |
2022 |
2
🐜
|
