MMG PUBLICATIONS

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Results: 2318  publications found.

Daniele, N.  et al. 2007

Ins and outs of therapy in limb girdle muscular dystrophies

Muscular dystrophies are hereditary degenerative muscle diseases that cause life-long disability in patients. They comprise the well-known Duchenne Muscular Dystrophy (DMD) but also the group of Limb...
Int. J. Biochem. Cell Biol. - issue: 9 - volume: 39 - pages: 1608-1624.


Viola, A.  et al. 2007

Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model

BACKGROUND: Rett syndrome (RS) is the leading cause of profound mental retardation of genetic origin in girls. Since RS is mostly caused by mutations in the MECP2 gene, transgenic animal models such...
PLoS ONE - issue: 1 - volume: 2 - pages: e157.


Berberian, B.  et al. 2007

Dynamics of visuo-spatial remembering: a study of information structuring in memory

We studied the process by which learning a pattern of motor activity reaches a steady-state characterized by a reduction in fluctuations. The stimuli consisted of eight visually presented dots that...
Cogn Process - issue: 4 - volume: 8 - pages: 245-260.


Moncla, A.  et al. 2007

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

Overexpression of the C-type natriuretic peptide, encoded by the NPPC gene in 2q37.1, was recently reported in a patient presenting an overgrowth phenotype and a balanced t(2;7)(q37.1;q21.3)...
Hum. Mutat. - issue: 12 - volume: 28 - pages: 1183-1188.


Lo, PCH.  et al. 2007

The Drosophila Hand gene is required for remodeling of the developing adult heart and midgut during metamorphosis

The Hand proteins of the bHLH family of transcriptional factors play critical roles in vertebrate cardiogenesis. In Drosophila, the single orthologous Hand gene is expressed in the developing...
Dev. Biol. - issue: 2 - volume: 311 - pages: 287-296.


de Pontual, L.  et al. 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...
Eur. J. Cancer - issue: 16 - volume: 43 - pages: 2366-2372.


Roux, J.  et al. 2007

[Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model]

Med Sci (Paris) - issue: 10 - volume: 23 - pages: 805-807.


Delague, V.  et al. 2007

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle weakness and wasting, foot and hand...
Am. J. Hum. Genet. - issue: 1 - volume: 81 - pages: 1-16.


Chihara, T.  et al. 2007

Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization

We identified a mutation in Aats-gly (also known as gars or glycyl-tRNA synthetase), the Drosophila melanogaster ortholog of the human GARS gene that is associated with Charcot-Marie-Tooth neuropathy...
Nat. Neurosci. - issue: 7 - volume: 10 - pages: 828-837.


Villard, L.  et al. 2007

MECP2 mutations in males

Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental...
J. Med. Genet. - issue: 7 - volume: 44 - pages: 417-423.


Benninger, Y.  et al. 2007

Essential and distinct roles for cdc42 and rac1 in the regulation of Schwann cell biology during peripheral nervous system development

During peripheral nervous system (PNS) myelination, Schwann cells must interpret extracellular cues to sense their environment and regulate their intrinsic developmental program accordingly. The...
J. Cell Biol. - issue: 6 - volume: 177 - pages: 1051-1061.


Golzio, C.  et al. 2007

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...
Am. J. Hum. Genet. - issue: 6 - volume: 80 - pages: 1179-1187.


Etchevers, H.  et al. 2007

[Genetic and molecular bases of neurocristopathies]

Arch Pediatr - issue: 6 - volume: 14 - pages: 668-672.


Bartoli, M.  et al. 2007

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

Myostatin is a negative regulator of muscle mass whose inhibition has been proposed as a therapeutic strategy for muscle-wasting conditions. Indeed, blocking myostatin action through different...
Gene Ther. - issue: 9 - volume: 14 - pages: 733-740.


Bartoli, M.  et al. 2007

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

Myostatin is a negative regulator of muscle mass whose inhibition has been proposed as a therapeutic strategy for muscle-wasting conditions. Indeed, blocking myostatin action through different...
Gene Ther. - issue: 9 - volume: 14 - pages: 733-740.


Bajolle, F.  et al. 2007

[Molecular aspects of congenital heart diseases]

Significant advances in the understanding of the molecular and genetic basis of congenital heart disease have emerged from gene inactivation studies in mice and from human genetic investigations. The...
Arch Mal Coeur Vaiss - issue: 5 - volume: 100 - pages: 484-489.


Cantagrel, V.  et al. 2007

Truncation of NHEJ1 in a patient with polymicrogyria

Polymicrogyria (PMG) is a common malformation of the human cerebral cortex for which both acquired and genetic causes are known. Although genetic heterogeneity is documented, only one gene is...
Hum. Mutat. - issue: 4 - volume: 28 - pages: 356-364.


Baala, L.  et al. 2007

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.


Roux, J.  et al. 2007

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome

Rett syndrome (RS) is a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein2 (MECP2) gene. No effective treatment exists. We previously showed...
Eur. J. Neurosci. - issue: 7 - volume: 25 - pages: 1915-1922.


Prall, OWJ.  et al. 2007

An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation

During heart development the second heart field (SHF) provides progenitor cells for most cardiomyocytes and expresses the homeodomain factor Nkx2-5. We now show that feedback repression of Bmp2/Smad1...
Cell - issue: 5 - volume: 128 - pages: 947-959.