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J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1265-1268. doi: 10.1136/jnnp-2015-312890. Epub 2016 Apr 15.

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

Author information

1
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.
2
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.
3
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.
4
Department of Neurology, Hospital Universitario Virgen del Rocío, Seville, Spain.
5
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.
6
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.

KEYWORDS:

ALS; HMSN (CHARCOT-MARIE-TOOTH); PARKINSON'S DISEASE; SPINAL MUSCULAR ATRO

PMID:
27083531
DOI:
10.1136/jnnp-2015-312890
[Indexed for MEDLINE]

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