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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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