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a ptg variant contributes to a milder phenotype in lafora diseaseptg变体有助于温和lafora疾病表型
A PTG Variant Contributes to a Milder Phenotype in
Lafora Disease
1. 2. ´ 1 ´ 3 1 ´
Rosa Guerrero , Santiago Vernia , Raul Sanz , Irene Abreu-Rodrıguez , Carmen Almaraz , Marıa
´ 2, Roberto Michelucci4, Carlo Alberto Tassinari7, Patrizia Riguzzi4, Carlo Nobile5, Pascual
Garcıa-Hoyos
2 ´ 1 ´ 1,6
Sanz , Jose M. Serratosa *, Pilar Gomez-Garre *
´ ´ ´ ´ ´ ´ ´ ´
1 Laboratorio de Neurologıa-Unidad de Epilepsia, Servicio de Neurologıa, Instituto Investigacion Sanitaria Fundacion Jimenez Dıaz, and Centro de Investigacion Biomedica
´
en Red de Enfermedades Raras (CIBERER), Madrid, Spain, 2 Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cientıficas (CSIC), and Centro de
´ ´ ´
Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Valencia, Spain, 3 Laboratorio de Investigaciones Biomedicas, Instituto de Biomedicina de Sevilla (IBiS),
Sevilla, Spain, 4 Unit of Neurology, Department of Neurosciences, Bellaria Hospital, Bologna, Italy, 5 Section of Padua, CNR-Institute of Neurosciences, Padua, Italy,
´ ´ ´
6 Unidad de Trastornos del Movimiento, Servicio d
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