Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation

Autor: Sánchez Marín, J.P., Sienes Bailo, P., Lahoz Alonso, R., Capablo Liesa, J.L., Gazulla Abio, J., Giménez Muñoz, J.A., Modrego Pardo, P.J., Pardiñas Barón, B., Izquierdo Álvarez, S.

Publikováno v: In Neurología (English Edition) October 2023 38(8):530-540

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Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.

Autor: Gazulla J; Department of Neurology, Miguel Servet University Hospital, Zaragoza, Spain., Izquierdo-Alvarez S; Section of Genetics, Department of Clinical Biochemistry, Miguel Servet University Hospital, Zaragoza, Spain., Ruiz-Fernández E; Department of Neurology, Miguel Servet University Hospital, Zaragoza, Spain., Berciano J; Department of Neurology, Marqués de Valdecilla University Hospital, University of Cantabria, Network Biomedical Research Center on Neurodegenerative Diseases, Santander, Spain.

Publikováno v: European journal of neurology [Eur J Neurol] 2022 Jan; Vol. 29 (1), pp. e1-e2. Date of Electronic Publication: 2021 Nov 14.

Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.

Autor: Gazulla J; Department of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain., Bellosta-Diago E; Department of Neurology, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain., Izquierdo-Alvarez S; Section of Genetics, Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain., Berciano J; Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Santander, Spain.

Publikováno v: European journal of neurology [Eur J Neurol] 2023 Aug; Vol. 30 (8), pp. 2539-2543. Date of Electronic Publication: 2023 May 19.

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022).

Autor: Gazulla J; Department of Neurology, Hospital Universitario Miguel Servet, Spain. Electronic address: josegazulla@gmail.com., Izquierdo-Alvarez S; Section of Genetics, Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Isabel la Católica, 1-3, 50009, Zaragoza, Spain., Berciano J; Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Santander, Spain.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2022 Dec; Vol. 65 (12), pp. 104633. Date of Electronic Publication: 2022 Oct 04.