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ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Morra, Vincenzo Brescia; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco.
Affiliation
  • Panza E; 1 Department of Human Genetics, University of Utah, Salt Lake City 84112, Utah, USA 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy emanuele.panza@genetics.utah.edu.
  • Escamilla-Honrubia JM; 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain.
  • Marco-Marín C; 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
  • Gougeard N; 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
  • De Michele G; 5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
  • Morra VB; 5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
  • Liguori R; 6 IRCCS Istituto delle Scienze Neurologiche di Bologna 40139, Italy 7 Department of Biomedical and NeuroMotor Sciences, University of Bologna 40139, Italy.
  • Salviati L; 8 Clinical Genetics Unit, Department of Woman and Child Health, University of Padova 35128, Italy 9 IRP Città della Speranza, Padova 35129, Italy.
  • Donati MA; 10 A. Meyer Institute, Firenze 50139, Italy.
  • Cusano R; 11 Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Cagliari 09042, Italy 12 CRS4, Parco Tecnologico della Sardegna, Cagliari 09010, Italy.
  • Pippucci T; 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
  • Ravazzolo R; 13 Medical Genetics Unit, G. Gaslini Institute, Genova 16147, Italy 14 University of Genova, DINOGMI Department, Genova 16147, Italy.
  • Németh AH; 15 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 16 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Smithson S; 17 Department of Clinical Genetics, St Michael's Hospital Bristol BS8 4LL, UK.
  • Davies S; 18 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Hurst JA; 19 Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • Bordo D; 20 IRCCS AOU San Martino - IST. Istituto Nazionale per la Ricerca sul Cancro, Genova 16132, Italy.
  • Rubio V; 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
  • Seri M; 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
Brain ; 139(Pt 1): e3, 2016 Jan.
Article in En | MEDLINE | ID: mdl-26297558
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ornithine / Spastic Paraplegia, Hereditary / Aldehyde Dehydrogenase / Mutation Limits: Female / Humans / Male Language: En Journal: Brain Year: 2016 Document type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ornithine / Spastic Paraplegia, Hereditary / Aldehyde Dehydrogenase / Mutation Limits: Female / Humans / Male Language: En Journal: Brain Year: 2016 Document type: Article Affiliation country: Italy