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LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Beetz, Christian; Westenberger, Ana; Al-Ali, Ruslan; Ameziane, Najim; Alhashmi, Nadia; Boustany, Rose-Mary; Al Mutairi, Fuad; Alfadhel, Majid; Al-Hassnan, Zuhair; AlSayed, Moenaldeen; Kandaswamy, Krishna K; Paknia, Omid; Skrahina, Volha; Rolfs, Arndt; Bauer, Peter.
Afiliação
  • Beetz C; CENTOGENE GmbH, Rostock, Germany.
  • Westenberger A; CENTOGENE GmbH, Rostock, Germany.
  • Al-Ali R; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Ameziane N; CENTOGENE GmbH, Rostock, Germany.
  • Alhashmi N; CENTOGENE GmbH, Rostock, Germany.
  • Boustany RM; National Genetic Center, Royal Hospital, Muscat, Oman.
  • Al Mutairi F; Neurogenetics Program, AUBMC Special Kids Clinic and Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Alfadhel M; Department of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Al-Hassnan Z; Genetics and Precision Medicine Department, King Abdullah Specialist Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • AlSayed M; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
  • Kandaswamy KK; Genetics and Precision Medicine Department, King Abdullah Specialist Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
  • Paknia O; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
  • Skrahina V; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Rolfs A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Bauer P; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Mov Disord ; 36(4): 1029-1031, 2021 04.
Article em En | MEDLINE | ID: mdl-33433017
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Doenças Raras Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Doenças Raras Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article