Suchergebnisse - "Pascual Pascual, S I"

PubPharm (176)

1

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease

enthalten in: Neurologia | 2024

von Sivera Mascaró, R. | García Sobrino, T. | Horga Hernández, A. | +32

2

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)

enthalten in: Neurologia | 2022

von Pitarch Castellano, I. | Cabrera-Serrano, M. | Calvo Medina, R. | +20

3

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex

enthalten in: European journal of neurology | 2020

von Lupo, V. | Won, S. | Frasquet, M. | +6

4

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

enthalten in: Neurologia | 2020

von Gutiérrez Gutiérrez, G. | Díaz-Manera, J. | Almendrote, M. | +31

CommentIn: Neurologia (Engl Ed). 2020 Nov - Dec;35(9):674-675. - PMID 31899010

5

Bi‐allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2‐NAB complex

enthalten in: European Journal of Neurology | 2020

von Lupo, V. | Won, S. | Frasquet, M. | +6

6

Ischaemic stroke in children with cardiopathy : An epidemiological study

enthalten in: Neurologia (Barcelona, Spain) | 2017

von Vázquez-López, M. | Castro-de Castro, P. | Barredo-Valderrama, E. | +5

7

Cannabidiol : its use in refractory epilepsies

enthalten in: Revista de neurologia | 2017

von Pesantez-Rios, G. | Armijos-Acurio, L. | Jimbo-Sotomayor, R. | +2

8

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

enthalten in: Molecular diagnosis & therapy | 2017

von Cacheiro, P. | Ordóñez-Ugalde, A. | Quintáns, B. | +8

9

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease : a 10-year experience

enthalten in: European journal of neurology | 2017

von van der Ploeg, A. | Kruijshaar, M. | Toscano, A. | +34

CommentIn: Eur J Neurol. 2018 Oct;25(10):e111. - PMID 30192061

10

Possible treatments for infantile spinal atrophy

enthalten in: Revista de neurologia | 2017

von Pascual-Pascual, S. | Garcia-Romero, M.

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