D. Récan

发表

Looking under every rock: Duchenne muscular dystrophy and traditional Chinese medicine

J. Kaplan, E. Vroom, J. Urtizberea, 2003, Neuromuscular Disorders.

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

A. Monaco, T. Meitinger, T. Strom, 1994, Nature.

Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.

C. Philippe, M. Fardeau, F. Tomé, 1994, American journal of medical genetics.

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.

82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands

F. Muntoni, D. Duboc, H. Worman, 2002, Neuromuscular Disorders.

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

M. Vidaud, C. Houdayer, D. Vidaud, 1998, American journal of medical genetics.

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter

B. Dutrillaux, F. Leturcq, J. Kaplan, 1994, Human Genetics.

Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.

F. Leturcq, R. Gherardi, D. Récan, 1995, Journal of neurology, neurosurgery, and psychiatry.

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

A. Munnich, N. Romero, F. Leturcq, 2001, Neuromuscular Disorders.

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.

A. Tabarin, X. Bertagna, M. Ito, 2000, The Journal of clinical investigation.

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

P. Billuart, J. Chelly, A. Kahn, 1996, Human molecular genetics.

Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature.

A. Saâd, N. Bouayed Abdelmoula, T. Rebai, 2003, Annales de genetique.

Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.

K. Campbell, I. Nonaka, F. Leturcq, 1993, American journal of human genetics.

Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?

P. Czernichow, J. Hugnot, F. Leturcq, 1992, The Journal of clinical investigation.

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

L. Kunkel, A. Covone, N. Archidiacono, 1989, American journal of human genetics.

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.

F. Muntoni, S. Manilal, F. Leturcq, 1998, Human molecular genetics.

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

J. Beckmann, K. Campbell, N. Romero, 1995, Nature Genetics.

X‐linked Emery–Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

C. Paradas, I. Illa, E. Gallardo, 2005, Muscle & nerve.

Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

F. Muntoni, Jacqueline A Taylor, V. Dubowitz, 1998, Neuromuscular Disorders.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Susan C. Brown, E. Mercuri, F. Muntoni, 2006, Brain : a journal of neurology.

Protein‐ and mRNA‐based phenotype–genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

C. Béroud, F. Leturcq, J. Kaplan, 2007, Human mutation.

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

C. Béroud, F. Leturcq, J. Kaplan, 2004, Neuromuscular Disorders.

Double lamin-emerin and lamin-desmin trouble

Francesco Muntoni, Sc Brown, Pascale Richard, 2005 .

[Metabolism of monocarbons and trisomy 21: sensitivity to methotrexate].

J. Lejeune, M. Rethoré, L. Nicolle, 1986, Annales de genetique.

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

A. Chapelle, M. Koenig, J. Kaplan, 1990, Cell.

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

J. Hugnot, J. Kaplan, J. Chelly, 1991, The Journal of clinical investigation.

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

N. Romero, D. Klatzmann, J. Hogrel, 2004, Human gene therapy.

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.

J. Connor, J. Chelly, J. Yates, 1992, Human molecular genetics.

Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.

F. Leturcq, J. Kaplan, D. Miličić, 2000, Croatian medical journal.

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

J. Ervasti, K. Campbell, N. Romero, 1993, The Journal of clinical investigation.

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

F. Rivier, B. Echenne, M. Cossée, 2004, Neuromuscular Disorders.

Mutations in the Muscle Sodium Channel Gene (SCN4A) in 13 French Families with Hyperkalemic Periodic Paralysis and Paramyotonia Congenita: Phenotype to Genotype Correlations and Demonstration of the Predominance of Two Mutations

G. Serratrice, F. Chapon, C. Confavreux, 1994, European journal of human genetics : EJHG.

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

D. Figarella-Branger, N. Lévy, J. Chelly, 2000, European Journal of Human Genetics.

Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies.

J. Kaplan, J. Chelly, G. van Ommen, 1989, Genomics.

Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy

F. Leturcq, P. Laforêt, B. Eymard, 2004, Heart.

Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

F. Muntoni, V. Dubowitz, S. Manilal, 1997, Neuromuscular Disorders.

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

N. Romero, F. Leturcq, J. Kaplan, 1997, Neuromuscular Disorders.

Clinical analysis of 32 patients carrying R453W LMNA mutation

F. Muntoni, B. Eymard, D. Toniolo, 2002 .