Variant ataxia-telangiectasia with prominent camptocormia.

Paucar, Martin; Schechtmann, Gaston; Taylor, Alexander Mr; Svenningsson, Per

Paucar, Martin; Schechtmann, Gaston; Taylor, Alexander Mr; Svenningsson, Per.

Afiliação

Paucar M; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address: martin.paucar-arce@sll.se.
Schechtmann G; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neurosurgery, Karolinska University Hospital, Stockholm, Sweden.
Taylor AM; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.
Svenningsson P; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Parkinsonism Relat Disord ; 62: 253-255, 2019 05.

Article em En | MEDLINE | ID: mdl-30579816

Assuntos

Ataxia Telangiectasia/diagnóstico; Ataxia Telangiectasia/genética; Variação Genética/genética; Atrofia Muscular Espinal/diagnóstico; Atrofia Muscular Espinal/genética; Curvaturas da Coluna Vertebral/diagnóstico; Curvaturas da Coluna Vertebral/genética; Adulto; Ataxia Telangiectasia/complicações; Feminino; Humanos; Atrofia Muscular Espinal/complicações; Curvaturas da Coluna Vertebral/complicações

Palavras-chave

ATM; Generalized dystonia; Sensory trick; Variant ataxia-telangiectasia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Curvaturas da Coluna Vertebral / Variação Genética / Ataxia Telangiectasia / Atrofia Muscular Espinal Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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