J. Urtizberea

发表

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

E. Chouery, A. Mégarbané, G. Lefranc, 2021, Journal of neuromuscular diseases.

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

B. Eymard, H. Bécane, D. Duboc, 2000, Pacing and clinical electrophysiology : PACE.

CAPN3 mutations in patients with idiopathic eosinophilic myositis

N. Romero, N. Lévy, F. Leturcq, 2006 .

Gamma-Sarcoglycanopathy (LGMD 2C) with del 525t mutation: Report of the first familial case in Niger

F. Leturcq, J. Urtizberea, H. Moumouni, 2012 .

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

K. Bushby, N. Lévy, F. Leturcq, 2011, Clinical genetics.

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

E. Tizzano, K. Kahrizi, H. Najmabadi, 2010, European journal of neurology.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

J. Beckmann, K. Bushby, J. Oeltjen, 2001, Neurology.

J. Alessandri, B. Doray, P. Gueguen, 2022, European journal of medical genetics.

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

In Ho Choi, George J. Feldman, David A. Fenstermacher, 2006, Nature Genetics.

Calpainopathy-a survey of mutations and polymorphisms.

J. Beckmann, K. Bushby, I. Richard, 1999, American journal of human genetics.

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

J. Beckmann, I. Richard, F. Leturcq, 1998, Brain : a journal of neurology.

Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran

D. Darvish, L. Sandoval, J. Urtizberea, 2013, Clinical genetics.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Nigel, K. Pelin, M. Bang, 1999, Proceedings of the National Academy of Sciences of the United States of America.

‘Cap myopathy’: Case report of a family

L. Vallée, N. Laing, A. Barois, 2006, Neuromuscular Disorders.

Molecular study of WISP3 in nine families originating from the Middle‐East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

E. Chouery, A. Mégarbané, J. Fischer, 2005, American journal of medical genetics. Part A.

Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.

M. Urbanek, M. Muenke, J. Connor, 2000, American journal of human genetics.

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.

B. Asselbergh, A. Malandrini, M. Dotti, 2019, Brain : a journal of neurology.

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Janel O. Johnson, D. Hernandez, A. Singleton, 2012, Brain : a journal of neurology.

Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)

J. Connor, M. Fardeau, M. le Merrer, 2000, Clinical genetics.

A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases

C. Robert, A. Mégarbané, N. Lévy, 2020, Clinical genetics.

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

K. Campbell, E. Chouery, A. Mégarbané, 2011, European Journal of Human Genetics.

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large‐sized genomic deletion and evidence for messenger RNA decay

C. Béroud, F. Chapon, V. Drouin‐Garraud, 2007, Clinical genetics.

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

A. Chapelle, K. Pelin, F. Muntoni, 1999, Neuromuscular Disorders.

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

F. Leturcq, J. Kaplan, G. Piluso, 2004, American journal of medical genetics. Part A.

Dysferlinopathy in Iran: Clinical and genetic report

N. Lévy, F. Fatehi, M. Krahn, 2015, Journal of the Neurological Sciences.

Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy

E. Hedley‐Whyte, L. Richard, J. Vallat, 2012, Annals of neurology.

UvA-DARE ( Digital Academic Repository ) Calpainopathy : a survey of mutations and polymorphisms

J. Beckmann, K. Bushby, I. Richard, 1999 .

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

J. Weissenbach, P. Beighton, D. Samson, 2000, Nature Genetics.

Progressive osseous heteroplasia

F. Kaplan, M. Merrer, F. Cartault, 1998 .

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Pieter J. de Jong, Saeed Bohlega, Jing Liu, 1998, Nature Genetics.

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

R. Taft, J. Crawford, M. S. van der Knaap, 2019, Neurology.

[Proximal myotonial myopathy (PROMM): clinical and histology study].

G. Bassez, J. Pouget, P. Laforêt, 2001, Revue neurologique.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

N. Bourg, R. Barohn, D. McKenna-Yasek, 2001, Neurology.

[GNE myopathy].

A. Béhin, J. Urtizberea, 2015, Medecine sciences : M/S.