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New spastic paraplegia phenotype associated to mutation of NFU1.
Tonduti, Davide; Dorboz, Imen; Imbard, Apolline; Slama, Abdelhamid; Boutron, Audrey; Pichard, Samia; Elmaleh, Monique; Vallée, Louis; Benoist, Jean François; Ogier, Heléne; Boespflug-Tanguy, Odile.
Afiliación
  • Tonduti D; Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France. davidetondu@hotmail.com.
  • Dorboz I; Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy. davidetondu@hotmail.com.
  • Imbard A; Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France. imen.dorboz@inserm.fr.
  • Slama A; Hormonology and Biochemistry Departement, Robert Debré Hospital, AP-HP, Paris, France. apolline.imbard@rdb.aphp.fr.
  • Boutron A; Department of Biochemistry, Bicetre Hospital, AP-HP, Le Kremlin Bicetre, France. abdel.slama@bct.aphp.fr.
  • Pichard S; Department of Biochemistry, Bicetre Hospital, AP-HP, Le Kremlin Bicetre, France. audrey.boutron@bct.aphp.fr.
  • Elmaleh M; Departement of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, 48, Boulevard Sérurier, 75019, Paris, France. samia.pichard@rdb.aphp.fr.
  • Vallée L; Departement of Pediatric Radiology, Robert Debré Hospital, AP-HP, Paris, France. monique.elmaleh@rdb.aphp.fr.
  • Benoist JF; Department of Neuropediatrics, CHRU, University Lille North, Lille, France. louis.vallee@chru-lille.fr.
  • Ogier H; Hormonology and Biochemistry Departement, Robert Debré Hospital, AP-HP, Paris, France. jean-francois.benoist@rdb.aphp.fr.
  • Boespflug-Tanguy O; Departement of Neuropediatrics and Metabolic Diseases, Robert Debré Hospital, AP-HP, 48, Boulevard Sérurier, 75019, Paris, France. helene.ogier@rdb.aphp.fr.
Orphanet J Rare Dis ; 10: 13, 2015 Feb 08.
Article en En | MEDLINE | ID: mdl-25758857
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Paraparesia Espástica Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Paraparesia Espástica Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido