Marzo 2009 - segcd

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

PublicacionesPor SEGCD Marzo 1, 2009

Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C. Hum Mutat. 2009 Mar;30(3):454-62

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

PublicacionesPor SEGCD Marzo 1, 2009

Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J. Hum Mutat. 2009 Mar;30(3):E520-9

Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models

PublicacionesPor SEGCD Marzo 1, 2009

Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI.Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

PublicacionesPor SEGCD Marzo 1, 2009

Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F. Am J Med Genet A. 2009 Mar;149A(3):343-8

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

PublicacionesPor SEGCD Marzo 1, 2009

Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH,…

Archivo por mes: Marzo 2009

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

Genetics and pathogenesis of inherited ataxias and spastic paraplegias

Friedreich ataxia: an update on animal models, frataxin function and therapies

The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease