Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

Thust, Steffi; Veneziano, Liana; Parkinson, Michael H; Bhatia, Kailash P; Mantuano, Elide; Gonzalez-Robles, Cristina; Davagnanam, Indran; Giunti, Paola

Thust, Steffi; Veneziano, Liana; Parkinson, Michael H; Bhatia, Kailash P; Mantuano, Elide; Gonzalez-Robles, Cristina; Davagnanam, Indran; Giunti, Paola.

Afiliação

Thust S; National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Veneziano L; Institute of Translational Pharmacology, National Research Council of Italy, Via Fosso del Cavaliere 100, 00133, Rome, Italy.
Parkinson MH; Ataxia Centre, Department of Clinical and Motor Neuroscience, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Bhatia KP; Department of Clinical and Motor Neuroscience, UCL Institute of Neurology, QueenSquare, London, WC1N 3BG, UK.
Mantuano E; Institute of Translational Pharmacology, National Research Council of Italy, Via Fosso del Cavaliere 100, 00133, Rome, Italy.
Gonzalez-Robles C; Ataxia Centre, Department of Clinical and Motor Neuroscience, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Davagnanam I; Brain Repair and Rehabilitation Unit, UCL Institute of Neurology, QueenSquare, London, WC1N 3BG, UK. indran.davagnanam@nhs.net.
Giunti P; Ataxia Centre, Department of Clinical and Motor Neuroscience, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. p.giunti@ucl.ac.uk.

Neurogenetics ; 23(2): 91-102, 2022 04.

Article em En | MEDLINE | ID: mdl-35079915

Assuntos

Coreia; Hipotireoidismo Congênito; Coreia/genética; Hipotireoidismo Congênito/genética; Humanos; Mutação; Proteínas Nucleares/genética; Fator Nuclear 1 de Tireoide; Fatores de Transcrição/genética

Palavras-chave

Benign hereditary chorea; Brain-lung-thyroid syndrome; NKX2.1; Pituitary cyst; Pituitary gland

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coreia / Hipotireoidismo Congênito Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

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