N. Romero

发表

A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.

A. Rosa, L. Fairbanks, L. Laróvere, 2004, Molecular genetics and metabolism.

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

M. Couce, L. Palacios, C. Jiménez-Mallebrera, 2017, Neuromuscular Disorders.

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

D. Figarella-Branger, G. Bassez, J. Pouget, 2007, Archives of neurology.

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

J. Weissenbach, P. Beighton, M. Hamida, 1996, Human Genetics.

Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.

J. Weissenbach, P. Beighton, D. Viljoen, 1995, Human molecular genetics.

Screening of the CAPN3 gene in patients with possible LGMD2A

N. Lévy, F. Leturcq, B. Eymard, 2006, Clinical genetics.

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

C. de Toma, K. Campbell, Y. Sunada, 1997, Journal of medical genetics.

From adhalinopathies to alpha-sarcoglycanopathies: An overview

F. Leturcq, K. Azibi, T. Voit, 1996, Neuromuscular Disorders.

G.P.5.01 Inflammatory or ‘congenital myopathy’ type findings in muscle biopsies of patients with LMNA mutations

S. Monges, F. Lubieniecki, A. Taratuto, 2007, Neuromuscular Disorders.

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

J. Beckmann, I. Richard, G. Restagno, 1996, Neuromuscular Disorders.

New POMT2 mutations causing congenital muscular dystrophy

N. Romero, F. Leturcq, L. Viollet, 2007, Neurology.