2. Academic Validation
  3. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

  • Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247.
Emanuele Panza 1,  Juan M Escamilla-Honrubia 2,  Clara Marco-Marín 3,  Nadine Gougeard 3,  Giuseppe De Michele 4,  Vincenzo Brescia Morra 4,  Rocco Liguori 5,  Leonardo Salviati 6,  Maria Alice Donati 7,  Roberto Cusano 8,  Tommaso Pippucci 9,  Roberto Ravazzolo 10,  Andrea H Németh 11,  Sarah Smithson 12,  Sally Davies 13,  Jane A Hurst 14,  Domenico Bordo 15,  Vicente Rubio 3,  Marco Seri 9
Affiliations

Affiliations

  • 1 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.
  • 2 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain.
  • 3 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.
  • 4 5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
  • 5 6 IRCCS Istituto delle Scienze Neurologiche di Bologna 40139, Italy 7 Department of Biomedical and NeuroMotor Sciences, University of Bologna 40139, Italy.
  • 6 8 Clinical Genetics Unit, Department of Woman and Child Health, University of Padova 35128, Italy 9 IRP Città della Speranza, Padova 35129, Italy.
  • 7 10 A. Meyer Institute, Firenze 50139, Italy.
  • 8 11 Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Cagliari 09042, Italy 12 CRS4, Parco Tecnologico della Sardegna, Cagliari 09010, Italy.
  • 9 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
  • 10 13 Medical Genetics Unit, G. Gaslini Institute, Genova 16147, Italy 14 University of Genova, DINOGMI Department, Genova 16147, Italy.
  • 11 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.
  • 12 17 Department of Clinical Genetics, St Michael's Hospital Bristol BS8 4LL, UK.
  • 13 18 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • 14 19 Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
  • 15 20 IRCCS AOU San Martino - IST. Istituto Nazionale per la Ricerca sul Cancro, Genova 16132, Italy.
PMID: 26297558 DOI: 10.1093/brain/awv247
Figures