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Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; Mohassel, Payam; Foley, A Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G; Wentzensen, Ingrid M; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S; Goldstein, David B; Schoser, Benedikt; Rösler, Kai M.
Afiliação
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA vandana.shashi@duke.edu carsten.janke@curie.fr jan.senderek@med.uni-muenchen.de.
  • Magiera MM; Institut Curie, CNRS UMR3348, PSL Research University, Orsay, France.
  • Klein D; CNRS UMR3348, Université Paris Sud, Université Paris-Saclay, Orsay, France.
  • Zaki M; Department of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
  • Schoch K; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Rudnik-Schöneborn S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Norman A; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Lopes Abath Neto O; Department of Clinical Genetics, St. Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Dusl M; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Yuan X; Friedrich Baur Institute at the Department of Neurology, Friedrich Baur Institute, University Hospital, LMU Munich, Munich, Germany.
  • Bartesaghi L; Department of Neurology, Developmental Neurobiology, University Hospital Würzburg, Würzburg, Germany.
  • De Marco P; Department of Neuroscience and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
  • Alfares AA; IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Marom R; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.
  • Arold ST; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Guzmán-Vega FJ; Texas Children's Hospital, Houston, TX, USA.
  • Pena LD; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
  • Smith EC; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
  • Steinlin M; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Babiker MO; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Mohassel P; Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Foley AR; Division of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital, Inselspital, University of Bern, Bern, Switzerland.
  • Donkervoort S; Neurosciences Centre, Al Jalila Children's Hospital, Dubai, UAE.
  • Kaur R; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Ghosh PS; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Stanley V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Musaev D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Nava C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Mignot C; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
  • Keren B; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
  • Scala M; Department of Genetics, Assistance Publique des Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
  • Tassano E; Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, Inserm U1127, CNRS, UMR 7225, UPMC Univ Paris 06, Paris, France.
  • Picco P; Department of Genetics, Assistance Publique des Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
  • Doneda P; Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, Inserm U1127, CNRS, UMR 7225, UPMC Univ Paris 06, Paris, France.
  • Fiorillo C; Department of Genetics, Assistance Publique des Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.
  • Issa MY; Institut du Cerveau et de la Moelle épinière, Sorbonne Universités, Inserm U1127, CNRS, UMR 7225, UPMC Univ Paris 06, Paris, France.
  • Alassiri A; IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Alahmad A; IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Gerard A; IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Liu P; Grande Ospedale Metropolitano Niguarda, Milano, Italy.
  • Yang Y; IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Ertl-Wagner B; Università degli Studi di Genova, Genova, Italy.
  • Kranz PG; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Wentzensen IM; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Stucka R; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Stong N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Allen AS; Texas Children's Hospital, Houston, TX, USA.
  • Goldstein DB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Schoser B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rösler KM; Baylor Genetics, Houston, TX, USA.
EMBO J ; 37(23)2018 12 03.
Article em En | MEDLINE | ID: mdl-30420557
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervos Periféricos / Células de Purkinje / Coluna Vertebral / Carboxipeptidases / Degenerações Espinocerebelares / Cerebelo / Neurônios Motores Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: EMBO J Ano de publicação: 2018 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervos Periféricos / Células de Purkinje / Coluna Vertebral / Carboxipeptidases / Degenerações Espinocerebelares / Cerebelo / Neurônios Motores Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: EMBO J Ano de publicação: 2018 Tipo de documento: Article País de publicação: Reino Unido