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Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

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Title: Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Authors: Baviera-Muñoz R; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain., Campins-Romeu M; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain., Carretero-Vilarroig L; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Cell Biology Department, University of Valencia, Valencia, Spain., Sastre-Bataller I; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain., Martínez-Torres I; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain., Vázquez-Costa JF; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain., Muelas N; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain., Sevilla T; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Department of Medicine, University of Valencia, Valencia, Spain., Vílchez JJ; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain., Aller E; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain; Department of Genetics, Hospital Universitari I Politècnic La Fe, Valencia, Spain., Jaijo T; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain; Department of Genetics, Hospital Universitari I Politècnic La Fe, Valencia, Spain., Bataller L; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Department of Medicine, University of Valencia, Valencia, Spain. Electronic address: bataller_lui@gva.es., Espinós C; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain; Laboratory of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Source: Journal of the neurological sciences [J Neurol Sci] 2021 Oct 15; Vol. 429, pp. 118062. Date of Electronic Publication: 2021 Aug 30.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
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  Data: Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
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  Data: <searchLink fieldCode="AU" term="%22Baviera-Muñoz+R%22">Baviera-Muñoz R</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Campins-Romeu+M%22">Campins-Romeu M</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Carretero-Vilarroig+L%22">Carretero-Vilarroig L</searchLink>; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Cell Biology Department, University of Valencia, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Sastre-Bataller+I%22">Sastre-Bataller I</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Torres+I%22">Martínez-Torres I</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Vázquez-Costa+JF%22">Vázquez-Costa JF</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain.<br /><searchLink fieldCode="AU" term="%22Muelas+N%22">Muelas N</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Sevilla+T%22">Sevilla T</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Department of Medicine, University of Valencia, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Vílchez+JJ%22">Vílchez JJ</searchLink>; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Aller+E%22">Aller E</searchLink>; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain; Department of Genetics, Hospital Universitari I Politècnic La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Jaijo+T%22">Jaijo T</searchLink>; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain; Department of Genetics, Hospital Universitari I Politècnic La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Bataller+L%22">Bataller L</searchLink>; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Department of Medicine, University of Valencia, Valencia, Spain. Electronic address: bataller_lui@gva.es.<br /><searchLink fieldCode="AU" term="%22Espinós+C%22">Espinós C</searchLink>; Rare Diseases Joint Unit, CIPF-IIS La Fe, Valencia, Spain; Department of Medicine, University of Valencia, Valencia, Spain; Laboratory of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
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  Data: <searchLink fieldCode="JN" term="%220375403%22">Journal of the neurological sciences</searchLink> [J Neurol Sci] 2021 Oct 15; Vol. 429, pp. 118062. <i>Date of Electronic Publication: </i>2021 Aug 30.
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