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Bilan des espèces exotiques envahissantes en milieux aquatiques sur le territoire français : bilan synthétique pour l'outre-mer

Sciences eaux & territoires la revue du Cemagref, 2012-02 (6)

2012

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Enjeux de la gestion des espèces exotiques envahissantes dans les milieux d'eau douce en outre-mer

Sciences eaux & territoires la revue du Cemagref, 2012-02 (6)

2012

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Nature genetics, 1999-03, Vol.21 (3), p.285-288

1999

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

Nature genetics, 2006-05, Vol.38 (5), p.525-527

2006

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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Journal of the neurological sciences, 2019-11, Vol.406, p.116376-116376, Article 116376

2019

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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

Neuromuscular disorders : NMD, 2004-09, Vol.14 (8), p.526-534

2004

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

Nature genetics, 1998-09, Vol.20 (1), p.31-36

1998

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

Nature genetics, 2000-12, Vol.26 (4), p.480-483

2000

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

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.452-457

2011

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.732-742

2005

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Biomimetic Phospholipid Membrane Organization on Graphene and Graphene Oxide Surfaces: A Molecular Dynamics Simulation Study

ACS nano, 2017-02, Vol.11 (2), p.1613-1625

2017

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Coexistence of larvae of tuna species and other fish in the surface mixed layer in the NW Mediterranean

Journal of plankton research, 2011-12, Vol.33 (12), p.1793-1812

2011

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Cannibalism among size classes of larvae may be a substantial mortality component in tuna

Marine ecology. Progress series (Halstenbek), 2011-07, Vol.433, p.205-219

2011

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Surface effects in maghemite nanoparticles

Journal of magnetism and magnetic materials, 2007-05, Vol.312 (1), p.L5-L9

2007

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Self-assembled trityl radical capsules--implications for dynamic nuclear polarization

Physical chemistry chemical physics : PCCP, 2015-01, Vol.17 (8), p.5785-5794

2015

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

Clinical genetics, 2011-10, Vol.80 (4), p.398-402

2011

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Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy

Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (5), p.2305-2310

1999

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

Annals of neurology, 2000-08, Vol.48 (2), p.170-180

2000

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Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

American journal of human genetics, 2000-01, Vol.66 (1), p.128-135

2000

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

Brain (London, England : 1878), 1998-09, Vol.121 (9), p.1735-1747

1998

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

European journal of neurology, 2010-01, Vol.17 (1), p.160-162

2010

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O.20Mutations in ACTN2 gene cause a novel form of adult-onset distal myopathy

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S120-S121

2019

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Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score

Annals of physical and rehabilitation medicine, 2013-12, Vol.56 (9), p.673-686

2013

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(28)
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Diseases Of Striated Muscles. Neuromuscular Diseases
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Bilan des espèces exotiques envahissantes en milieux aquatiques sur le territoire français : bilan synthétique pour l'outre-mer

Enjeux de la gestion des espèces exotiques envahissantes dans les milieux d'eau douce en outre-mer

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

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

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

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

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

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

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Biomimetic Phospholipid Membrane Organization on Graphene and Graphene Oxide Surfaces: A Molecular Dynamics Simulation Study

Coexistence of larvae of tuna species and other fish in the surface mixed layer in the NW Mediterranean

Cannibalism among size classes of larvae may be a substantial mortality component in tuna

Surface effects in maghemite nanoparticles

Self-assembled trityl radical capsules--implications for dynamic nuclear polarization

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

Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy

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

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

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

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

O.20Mutations in ACTN2 gene cause a novel form of adult-onset distal myopathy

Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score

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