Suchergebnisse - "Fernández-Torrón, Roberto"

PubPharm (83)

1

Correction to : Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

enthalten in: Journal of neurology | 2024

von Esteller, D. | Schiava, M. | Verdú-Díaz, J. | +63

ErratumFor: J Neurol. 2023 Dec;270(12):5849-5865. - PMID 37603075

2

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

3

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

enthalten in: Journal of neurology | 2024

von Esteller, D. | Schiava, M. | Verdú-Díaz, J. | +63

4

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

enthalten in: European journal of neurology | 2023

von Iruzubieta, P. | Pellerin, D. | Bergareche, A. | +22

5

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

enthalten in: Journal of neurology | 2023

von Esteller, D. | Schiava, M. | Verdú-Díaz, J. | +63

ErratumIn: J Neurol. 2024 Feb 13;:. - PMID 38349561

6

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

enthalten in: Journal of neurology | 2023

von Esteller, D. | Schiava, M. | Verdú-Díaz, J. | +63

7

265th ENMC International Workshop : Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22-24 April 2022, Hoofddorp, The Netherlands

enthalten in: Neuromuscular disorders : NMD | 2023

von Monforte, M. | Attarian, S. | Vissing, J. | +27

8

Frequency and phenotypic spectrum of spinocerebellar ataxia27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

enthalten in: European Journal of Neurology | 2023

von Iruzubieta, P. | Pellerin, D. | Bergareche, A. | +22

9

Senescence plays a role in myotonic dystrophy type 1

enthalten in: JCI insight | 2022

von García-Puga, M. | Saenz-Antoñanzas, A. | Gerenu, G. | +10

10

Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

enthalten in: Cells | 2022

von Alegre-Cortés, E. | Giménez-Bejarano, A. | Uribe-Carretero, E. | +15

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