Your browser doesn't support javascript.
loading
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard, Mohammad Ali; Rebelo, Adriana P; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintáns, Beatriz; Ordóñez-Ugalde, Andrés; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt C; Martuscelli, Nicole B; Bis-Brewer, Dana M; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Tournev, Ivailo; Chamova, Teodora; Mueller, Amelie J; Haack, Tobias B; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A; Synofzik, Matthis; Sobrido, María-Jesús; Jordanova, Albena; Schüle, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali.
Afiliação
  • Farazi Fard MA; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Rebelo AP; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Buglo E; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Nemati H; Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Dastsooz H; Persian BayanGene Research and Training Center, Shiraz, Iran; Italian Institute for Genomic Medicine, University of Turin, Turin 10126 Italy.
  • Gehweiler I; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076, Germany; German Center for Neurodegenerative Diseases, Tübingen 72706, Germany.
  • Reich S; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076, Germany; German Center for Neurodegenerative Diseases, Tübingen 72706, Germany.
  • Reichbauer J; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076, Germany; German Center for Neurodegenerative Diseases, Tübingen 72706, Germany.
  • Quintáns B; Neurogenetics Group Instituto de Investigación Sanitaria, Hospital Clínico de Santiago, Santiago de Compostela 15706, Spain.
  • Ordóñez-Ugalde A; Neurogenetics Group Instituto de Investigación Sanitaria, Hospital Clínico de Santiago, Santiago de Compostela 15706, Spain.
  • Cortese A; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Courel S; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Abreu L; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Powell E; The Genesis Project foundation Miami, FL 33136, USA.
  • Danzi MC; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Martuscelli NB; Department of Biology University of Miami, Miami, FL 33136, USA.
  • Bis-Brewer DM; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Tao F; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Zarei F; Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Habibzadeh P; Persian BayanGene Research and Training Center, Shiraz, Iran; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Yavarian M; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Modarresi F; Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences, University of Miami, Miami, FL 33136 USA.
  • Silawi M; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Tabatabaei Z; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Yousefi M; Persian BayanGene Research and Training Center, Shiraz, Iran.
  • Farpour HR; Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Kessler C; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076, Germany; German Center for Neurodegenerative Diseases, Tübingen 72706, Germany.
  • Mangold E; Institute of Human Genetics University of Bonn, Bonn 53113, Germany.
  • Kobeleva X; Department of Neurology, University of Bonn, Bonn 53113, Germany.
  • Tournev I; Department of Neurology, Medical University-Sofia, Sofia 1431, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia 1618, Bulgaria.
  • Chamova T; Department of Neurology, Medical University-Sofia, Sofia 1431, Bulgaria.
  • Mueller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72706, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen 72706, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72706, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen 72706, Germany.
  • Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, Ontario L8S 4L8, Canada.
  • Gan-Or Z; Department of Human Genetics, McGill University, Montréal, Quebec H3A 0G4, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • Rouleau GA; Department of Human Genetics, McGill University, Montréal, Quebec H3A 0G4, Canada; Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076, Germany; German Center for Neurodegenerative Diseases, Tübingen 72706, Germany.
  • Sobrido MJ; Neurogenetics Group Instituto de Investigación Sanitaria, Hospital Clínico de Santiago, Santiago de Compostela 15706, Spain.
  • Jordanova A; Molecular Neurogenomics Group, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerpen 2610, Belgium; Molecular Medicine Center Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia 1431, Bulgaria.
  • Schüle R; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen 72076, Germany; German Center for Neurodegenerative Diseases, Tübingen 72706, Germany.
  • Zuchner S; John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL 33136, USA.
  • Faghihi MA; Persian BayanGene Research and Training Center, Shiraz, Iran; Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences, University of Miami, Miami, FL 33136 USA. Electronic address: mfaghihi@med.miami.edu.
Am J Hum Genet ; 104(4): 767-773, 2019 04 04.
Article em En | MEDLINE | ID: mdl-30929741
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas de Transporte / Mutação Limite: Adolescent / Adult / Aged / Aged80 / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas de Transporte / Mutação Limite: Adolescent / Adult / Aged / Aged80 / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article