Publications by authors named "Carmen Espinós"

59Publications

Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.

Neurol Genet 2021 Feb 21;7(1):e543. Epub 2021 Jan 21.

Unidad de Trastornos del Movimiento (S.J., F.C., D.M.-G., A.A., P.M.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED) (S.J., F.C., D.M.-G., A.A., P.M.), Spain; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders (I.H., D.M.-R., A.S.-M., V.L., C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Joint Units INCLIVA and IIS La Fe Rare Diseases (I.H., D.M.-R., A.S.-M., V.L., C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Department of Pediatric Neurology (B.P.-D.), Hospital Universitari Vall d'Hebron, Barcelona, Spain; and Universitat Autònoma de Barcelona (B.P.-D.), Spain.

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February 2021

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).

Antioxidants (Basel) 2020 Oct 20;9(10). Epub 2020 Oct 20.

Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain.

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October 2020

Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

JHEP Rep 2020 Aug 18;2(4):100114. Epub 2020 Apr 18.

Department of Internal Medicine 3, Gastroenterology and Hepatology, Medical University of Vienna, Austria.

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August 2020

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

Clin Genet 2020 05 17;97(5):758-763. Epub 2020 Feb 17.

Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.

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May 2020

Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.

Mov Disord Clin Pract 2019 Nov 25;6(8):704-707. Epub 2019 Oct 25.

Pediatric Neurology Department, Centro Materno Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal.

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November 2019

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.

J Neurol Sci 2019 Jul 15;402:156-161. Epub 2019 May 15.

Health Research Institute Hospital La Fe (IIS La Fe), Department of Neurology of the Hospital Universitari i Politècnic La Fe, 46026, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Department of Medicine, School of Medicine, University of Valencia, 46010, Valencia, Spain. Electronic address:

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July 2019

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

Stem Cell Res 2018 12 12;33:166-170. Epub 2018 Oct 12.

Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain; National Stem Cell Bank-Valencian Node, Platform for Proteomics, Genotyping and Cell Lines PRB3, Research Centre Principe Felipe, c/Eduardo Primo Yufera 3, 46012, Valencia, Spain; Institute of Experimental Medicine, Department of Tissue Cultures and Stem Cells, Academy of Science of the Czech Republic, Prague, Czech Republic. Electronic address:

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December 2018

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

Stem Cell Res 2018 08 27;31:249-252. Epub 2018 Jul 27.

Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain; National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, 46012 Valencia, Spain; Institute of Experimental Medicine, Department of Tissue Cultures and Stem Cells, Academy of Science of the Czech Republic, Prague, Czech Republic. Electronic address:

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August 2018

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

J Neurol Sci 2018 04 7;387:134-138. Epub 2018 Feb 7.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain. Electronic address:

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April 2018

The gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.

Dis Model Mech 2018 01 17;11(1). Epub 2018 Jan 17.

Program in Molecular Mechanisms of Disease, Centro de Investigación Príncipe Felipe (CIPF), c/ Eduardo Primo Yúfera no. 3, 46012 Valencia, Spain

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January 2018

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

Neurogenetics 2017 Dec 3;18(4):245-250. Epub 2017 Oct 3.

Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), c/ Eduardo Primo Yúfera, 3, 46012, Valencia, Spain.

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December 2017