Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.

Autor: Lobo CC; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Wertheimer GSO; Department of Radiology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Schmitt GS; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Matos PCAAP; Department of Neurology and Neurosurgery, School of Medicine, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Rezende TJR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Silva JM; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Borba FC; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Lima FD; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Martinez ARM; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Barsottini OGP; Department of Neurology and Neurosurgery, School of Medicine, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Pedroso JL; Department of Neurology and Neurosurgery, School of Medicine, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Marques W Jr; Department of Neurosciences, School of Medicine, University of São Paulo at Ribeirão Preto (USP-RP), Ribeirão Preto, Brazil., França MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 Jan; Vol. 11 (1), pp. 45-52. Date of Electronic Publication: 2023 Nov 29.

Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation.

Autor: Schmitt GDS; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Lima FD; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Matos PCAAP; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Martinez ARM; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., González-Salazar C; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Nucci A; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Marques W Jr; Department of Neurosciences and Behavioral Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., Barsottini OGP; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Pedroso JL; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., França MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil. Electronic address: mcfrancajr@uol.com.br.

Publikováno v: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology [Clin Neurophysiol] 2022 Oct; Vol. 142, pp. 68-74. Date of Electronic Publication: 2022 Aug 04.

Brain Structural Signature of RFC1-Related Disorder.

Autor: Matos PCAAP; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Rezende TJR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Schmitt GS; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Bonadia LC; Department of Medical Genetics, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Reis F; Department of Radiology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Martinez ARM; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., de Lima FD; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Bueno MGA; Department of Neuroscience and Behavioural Science, School of Medicine, University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, Brazil., Tomaselli PJ; Department of Neuroscience and Behavioural Science, School of Medicine, University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, Brazil., Cendes F; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil., Pedroso JL; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Barsottini OGP; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Marques W Jr; Department of Neuroscience and Behavioural Science, School of Medicine, University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, Brazil., França M Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Nov; Vol. 36 (11), pp. 2634-2641. Date of Electronic Publication: 2021 Jul 09.