PUBLICATIONS MMG

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Résultats : 1693  publications trouvées.

Eyrnard, B.  et al. 2012

Diagnostic strategy for limb-girdle muscular dystrophies

Limb-girdle muscular dystrophies represent a major chapter of genetic myopathies. Many different entities have been identified, most of them with recessive transmission, a minority with dominant...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 919-926.


Van Vliet, P.  et al. 2012

Early cardiac development: a view from stem cells to embryos

From the 1920s, early cardiac development has been studied in chick and, later, in mouse embryos in order to understand the first cell fate decisions that drive specification and determination of the...
Cardiovasc. Res. - issue: 3 - volume: 96 - pages: 352-362.


Lamine, F.  et al. 2012

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best...
Pituitary - issue: - volume: 15 Suppl 1 - pages: S81-86.


De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

WOS:000311615100035
Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


Horn, M.  et al. 2012

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health...
Brain - issue: Pt 12 - volume: 135 - pages: 3567-3583.


De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

WOS:000311615100035
Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


Attarian, S.  et al. 2012

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 910-918.


De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.


Kannan, MA.  et al. 2012

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

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic...
Neurol India - issue: 6 - volume: 60 - pages: 631-634.


Attarian, S.  et al. 2012

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 910-918.


Herbaux, C.  et al. 2012

B-Cell-Specific Transcription Factor BACH2 Involved in the Clinical Behavior Heterogeneity of Waldenstrom Macroglobulinemia

WOS:000313838902278
Blood - issue: 21 - volume: 120 - pages: .


Gonzalez-Rodriguez, D.  et al. 2012

Soft matter models of developing tissues and tumors

Analogies with inert soft condensed matter--such as viscoelastic liquids, pastes, foams, emulsions, colloids, and polymers--can be used to investigate the mechanical response of soft biological...
Science - issue: 6109 - volume: 338 - pages: 910-917.


Gonzalez-Rodriguez, D.  et al. 2012

Soft matter models of developing tissues and tumors

Analogies with inert soft condensed matter--such as viscoelastic liquids, pastes, foams, emulsions, colloids, and polymers--can be used to investigate the mechanical response of soft biological...
Science - issue: 6109 - volume: 338 - pages: 910-917.


Watanabe, Y.  et al. 2012

Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium

During cardiogenesis, Fibroblast Growth Factor (Fgf10) is expressed in the anterior second heart field. Together with Fibroblast growth factor 8 (Fgf8), Fgf10 promotes the proliferation of these...
Proc. Natl. Acad. Sci. U. S. A. - issue: 45 - volume: 109 - pages: 18273-18280.


Watanabe, Y.  et al. 2012

Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium

During cardiogenesis, Fibroblast Growth Factor (Fgf10) is expressed in the anterior second heart field. Together with Fibroblast growth factor 8 (Fgf8), Fgf10 promotes the proliferation of these...
Proc. Natl. Acad. Sci. U.S.A. - issue: 45 - volume: 109 - pages: 18273-18280.


Carmignac, V.  et al. 2012

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome...
Am. J. Hum. Genet. - issue: 5 - volume: 91 - pages: 950-957.


Doubaj, Y.  et al. 2012

An inherited LMNA gene mutation in atypical Progeria syndrome

HutchinsonGilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis...
Am. J. Med. Genet. A - issue: 11 - volume: 158A - pages: 2881-2887.