A. Urtizberea

发表

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

F. Rivier, F. Chapon, C. Richelme, 2019, Orphanet Journal of Rare Diseases.

Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids 2–4 April 2004, Naarden, The Netherlands

R. Griggs, K. Bushby, F. Muntoni, 2004, Neuromuscular Disorders.

1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France

D. Israeli, R. Carlier, J. Marsolier, 2017, Neuromuscular Disorders.

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Bjarne Udd, Ségolène Aymé, Ada Hamosh, 2018, Neuromuscular Disorders.

Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

E. Mercuri, K. Bushby, F. Muntoni, 2000, Annals of neurology.

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.

A. Mégarbané, L. Viollet, C. Maurage, 2001, American journal of medical genetics.

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

C. Béroud, D. Figarella-Branger, G. Bassez, 2005, Human mutation.

Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation

A. Toutain, B. Echenne, L. Kalaydjieva, 2000, Neurology.

A novel CRYAB mutation resulting in multisystemic disease

L. Féasson, J. Antoine, A. Casarín, 2012, Neuromuscular Disorders.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

F. Muntoni, V. Sardone, E. Ricci, 2021, Journal of neuropathology and experimental neurology.

OP-JNEN210096 1..11

F. Muntoni, V. Sardone, E. Ricci, 2021 .

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.

I. Nelson, A. D’Amico, R. Carlier, 2021, Brain : a journal of neurology.

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

A. Chessel, C. Béroud, A. Boland, 2021, Biomedicines.

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

F. Rivier, A. Toutain, B. Echenne, 2009, Human molecular genetics.

Clinical aspects of neuromuscular diseases

I. Desguerre, A. Urtizberea, 1997, Pediatric pulmonology. Supplement.

Current management of Duchenne muscular dystrophy in the Middle East: expert report

A. Mégarbané, L. Bastaki, A. Shehri, 2019, Neurodegenerative disease management.

Dynamin 2 mutations associated with human diseases impair clathrin‐mediated receptor endocytosis

N. Romero, J. Bevilacqua, M. Bitoun, 2009, Human mutation.

Evoked Potentials in Spinal Muscular Atrophy

L. Viollet, A. Barois, A. Urtizberea, 2003, Journal of child neurology.

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

Hanns Lochmüller, L. Bastaki, A. Urtizberea, 2018, Muscle & nerve.

Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.

M. Hegde, S. Khadilkar, D. Love, 2009, Neurology India.

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

A. Toutain, B. Echenne, L. Kalaydjieva, 2000, Neurology.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

K. Claeys, T. Stojkovic, W. Kress, 2019, Journal of Neurology.

Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3

E. Chouery, A. Mégarbané, G. Lefranc, 2017 .

Phenotypic variability in giant axonal neuropathy

J. Vallat, K. Huehne, B. Rautenstrauss, 2009, Neuromuscular Disorders.

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.

K. Huehne, B. Rautenstrauss, A. Nalini, 2008, European journal of medical genetics.

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2004, American journal of medical genetics. Part A.

Clinical Report Atypical Findings in Kabuki Syndrome: Report of 8 Patients in a Series of 20 and Review of the Literature

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2004 .

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

J. Beckmann, M. Hauser, K. Zerres, 2009, American journal of human genetics.

Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

K. Claeys, D. Figarella-Branger, H. Goebel, 2010, Neuromuscular Disorders.

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

A. Mégarbané, R. Nabbout, V. Delague, 2000, American journal of medical genetics.

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

E. Bertini, B. Giusti, E. Mercuri, 2005, Neurology.

Screening of the CAPN3 gene in patients with possible LGMD2A

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

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

F. Chapon, A. Geille, G. Bassez, 2016, PloS one.

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.

R. Borgohain, M. Krahn, A. Urtizberea, 2012, Neurology India.

Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies

C. Lacroix, C. Sommer, P. Dyck, 2010, Journal of the peripheral nervous system : JPNS.

66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26–28 March 1999, Naarden, The Netherlands

J. Beckmann, K. Bushby, F. Muntoni, 1999, Neuromuscular Disorders.

Spectrum of mutations in sarcoglycan genes in Mumbai , India : High prevalence of 525 del T

M. Hegde, S. Khadilkar, D. Love, 2022 .

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy

Bhanudeep Singanamalla, R. Suthar, A. Urtizberea, 2021, Journal of Pediatric Genetics.

Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy

M. Houshmand, Zahra Farjami, E. Razmara, 2021, Iranian journal of child neurology.

Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10–11 November 2000, Naarden, The Netherlands

E. Bertini, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

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.

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.

[Pathological anatomy of the heart in myopathies and infantile muscular atrophies].

B. Estournet, A. Barois, A. Urtizberea, 1991, Annales de medecine interne.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.