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Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.
Moghadam, Keivan Kaveh; Pizza, Fabio; Tonon, Caterina; Lodi, Raffaele; Carelli, Valerio; Poli, Francesca; Franceschini, Christian; Barboni, Piero; Seri, Marco; Ferrari, Simona; La Morgia, Chiara; Testa, Claudia; Cornelio, Ferdinando; Liguori, Rocco; Winkelmann, Juliane; Lin, Ling; Mignot, Emmanuel; Plazzi, Giuseppe.
Afiliación
  • Moghadam KK; DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Pizza F; DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
  • Tonon C; Functional MR Unit, DIBINEM Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Lodi R; Functional MR Unit, DIBINEM Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Carelli V; DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
  • Poli F; DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
  • Franceschini C; Department of Clinical and Experimental Medicine, University of Parma, Parma, Italy.
  • Barboni P; Studio Oculistico d'Azeglio, Bologna, Italy.
  • Seri M; Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, DIMEC Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Ferrari S; Medical Genetics Unit, Policlinico Sant'Orsola-Malpighi, DIMEC Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • La Morgia C; DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
  • Testa C; Functional MR Unit, DIBINEM Alma Mater Studiorum, University of Bologna, Bologna, Italy.
  • Cornelio F; IRCCS, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
  • Liguori R; DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
  • Winkelmann J; Institute of Human Genetics and Department of Neurology, Technische Universitat Munchen, Munich, Germany; Center for Sleep Sciences and Medicine, Department of Psychiatry, Stanford University School of Medicine, Palo Alto, CA, USA.
  • Lin L; Center for Sleep Sciences and Medicine, Department of Psychiatry, Stanford University School of Medicine, Palo Alto, CA, USA.
  • Mignot E; Center for Sleep Sciences and Medicine, Department of Psychiatry, Stanford University School of Medicine, Palo Alto, CA, USA.
  • Plazzi G; DIBINEM, Alma Mater Studiorum, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. Electronic address: giuseppe.plazzi@unibo.it.
Sleep Med ; 15(5): 582-5, 2014 May.
Article en En | MEDLINE | ID: mdl-24709307
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Sordera / ADN (Citosina-5-)-Metiltransferasas / Narcolepsia Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Sleep Med Asunto de la revista: NEUROLOGIA / PSICOFISIOLOGIA Año: 2014 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Sordera / ADN (Citosina-5-)-Metiltransferasas / Narcolepsia Límite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Sleep Med Asunto de la revista: NEUROLOGIA / PSICOFISIOLOGIA Año: 2014 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos