Suchergebnisse - "Hernández-Lain, Aurelio"

PubPharm (154)

1

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome : new homozygous VAMP1 splicing variants in 2 novel individuals

enthalten in: Journal of human genetics | 2024

von Cotrina-Vinagre, F. | Rodríguez-García, M. | Del Pozo-Filíu, L. | +8

2

Sexual-biased necroinflammation is revealed as a predictor of bevacizumab benefit in Glioblastoma

enthalten in: Neuro-oncology | 2024

von Hiller-Vallina, S. | Mondejar-Ruescas, L. | Caamaño-Moreno, M. | +7

3

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

enthalten in: Brain : a journal of neurology | 2024

von Iruzubieta, P. | Damborenea, A. | Ioghen, M. | +29

4

Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

enthalten in: Scientific reports | 2024

von Piñol-Jurado, P. | Verdú-Díaz, J. | Fernández-Simón, E. | +21

5

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

enthalten in: Journal of neurology | 2024

von de Fuenmayor-Fernández de la Hoz, C. | Lupo, V. | Bermejo-Guerrero, L. | +7

6

BBB dysfunction drives neurotoxic myeloid cells in glioblastoma and Alzheimer’s disease

enthalten in: ResearchSquare.com | 2023

von Segura-Collar, B. | Mondejar-Ruescas, L. | Garranzo-Asensio, M. | +7

7

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

enthalten in: Neuromuscular disorders : NMD | 2023

von Bermejo-Guerrero, L. | de Fuenmayor Fernández-de la Hoz, C. | González-Quereda, L. | +8

8

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

enthalten in: Brain : a journal of neurology | 2023

von Mavillard, F. | Servian-Morilla, E. | Dofash, L. | +13

9

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

enthalten in: Journal of neurology | 2023

von de Fuenmayor-Fernández de la Hoz, C. | Lupo, V. | Bermejo-Guerrero, L. | +7

10

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy : 25 Roma individuals carrying a founder variant

enthalten in: Journal of medical genetics | 2023

von Justel, M. | Jou, C. | Sariego-Jamardo, A. | +29

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[16]