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BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia.

التفاصيل البيبلوغرافية
العنوان: BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia.
المؤلفون: Garone G; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy., Capuano A; Child and Adolescent Neuropsychiatric Unit, Azienda Sanitaria Locale Viterbo, Viterbo, Italy., Amodio D; Academic Department of Pediatrics (DPUO), Research Unit of Clinical Immunology and Vaccinology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nicita F; Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Travaglini L; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Graziola F; Department of Paediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., De Benedictis A; Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Frascarelli F; Neurorehabilitation Unit, Bambino Gesù Children's Hospital, Rome, Italy., Parisi P; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Marras CE; Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
المصدر: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Jul; Vol. 11 (7), pp. 897-901. Date of Electronic Publication: 2024 May 27.
نوع المنشور: Letter; Case Reports
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Hoboken, NJ : Wiley, [2014]-
مواضيع طبية MeSH: Dystonic Disorders*/genetics, Humans ; Male ; Female ; Dystonia/genetics ; Tumor Suppressor Proteins/genetics ; Child ; Age of Onset ; Mutation
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Brain. 2018 Aug 1;141(8):2299-2311. (PMID: 29985992)
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Brain. 2022 Mar 29;145(1):119-141. (PMID: 34077496)
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Eur J Med Genet. 2020 Sep;63(9):104007. (PMID: 32659295)
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Expert Rev Neurother. 2021 Jan;21(1):81-97. (PMID: 33089715)
فهرسة مساهمة: Keywords: BCL11B; children; dystonia; immunodeficiency; movement disorders
المشرفين على المادة: 0 (Tumor Suppressor Proteins)
تواريخ الأحداث: Date Created: 20240527 Date Completed: 20240710 Latest Revision: 20240712
رمز التحديث: 20240712
مُعرف محوري في PubMed: PMC11233837
DOI: 10.1002/mdc3.14084
PMID: 38801144
قاعدة البيانات: MEDLINE
الوصف
تدمد:2330-1619
DOI:10.1002/mdc3.14084