title: Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
authors.affiliation: Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Frasquet
authors.affiliation: Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Department of Clinical Neurophysiology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
authors.forename: M J
authors.initials: MJ
authors.lastname: Chumillas
authors.affiliation: Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Department of Medicine, University of Valencia, Valencia, Spain.
authors.forename: J J
authors.initials: JJ
authors.lastname: Vílchez
authors.affiliation: Department of Neurology, Hospital Universitario Virgen del Rocío, Seville, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Márquez-Infante
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Department of Genetic and Molecular Medicine, Instituto Pediátrico de Enfermedades Raras (IPER), and Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain Department of Pediatrics, University of Barcelona, Barcelona, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Palau
authors.affiliation: Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
authors.forename: J F
authors.identifier: 0000-0002-3043-7938
authors.initials: JF
authors.lastname: Vázquez-Costa
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: V
authors.initials: V
authors.lastname: Lupo
authors.affiliation: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Espinós
authors.affiliation: Neuromuscular Research Unit, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain Department of Medicine, University of Valencia, Valencia, Spain.
authors.forename: T
authors.initials: T
authors.lastname: Sevilla
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D013030:Spain
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018797:Cell Cycle Proteins; D006360:Heat-Shock Proteins; C470309:MAD2L1BP protein, human; D009687:Nuclear Proteins
keywords: ALS; HMSN (CHARCOT-MARIE-TOOTH); PARKINSON'S DISEASE; SPINAL MUSCULAR ATRO