PUBLICATIONS MMG

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Résultats : 2253  publications trouvées.

Abidi, A.  et al. 2015

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed that the...
Neurobiol. Dis. - issue: - volume: 80 - pages: 80-92.


Barthelemy, F.  et al. 2015

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene...
Eur. J. Hum. Genet. - issue: 8 - volume: 23 - pages: 1051-1061.


El Waly, B.  et al. 2015

Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex

DNA double-strand breaks (DSBs) frequently occur in rapidly dividing cells such as proliferating progenitors during central nervous system development. If they cannot be repaired, these lesions will...
Mol. Neurobiol. - issue: 1 - volume: 52 - pages: 771-782.


Bannwarth, S.  et al. 2015

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

WOS:000360578700006
Brain - issue: - volume: 138 - pages: E373-U13.


Barthelemy, F.  et al. 2015

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene...
Eur. J. Hum. Genet. - issue: 8 - volume: 23 - pages: 1051-1061.


Abidi, A.  et al. 2015

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed that the...
Neurobiol. Dis. - issue: - volume: 80 - pages: 80-92.


Moore-Morris, T.  et al. 2015

Cardiac fibroblasts: from development to heart failure

Cardiac fibroblasts are a major cell population of the heart and are characterized by their capacity to produce extracellular matrix (ECM). In hearts subjected to pressure overload, excessive...
J. Mol. Med. - issue: 8 - volume: 93 - pages: 823-830.


Abidi, A.  et al. 2015

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed that the...
Neurobiol. Dis. - issue: - volume: 80 - pages: 80-92.


Barthélémy, F.  et al. 2015

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene...
Eur. J. Hum. Genet. - issue: 8 - volume: 23 - pages: 1051-1061.


El Waly, B.  et al. 2015

Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex

DNA double-strand breaks (DSBs) frequently occur in rapidly dividing cells such as proliferating progenitors during central nervous system development. If they cannot be repaired, these lesions will...
Mol. Neurobiol. - issue: 1 - volume: 52 - pages: 771-782.


Barthelemy, F.  et al. 2015

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene...
Eur. J. Hum. Genet. - issue: 8 - volume: 23 - pages: 1051-1061.


Tripathi, S.  et al. 2015

The gastrin and cholecystokinin receptors mediated signaling network: a scaffold for data analysis and new hypotheses on regulatory mechanisms

BACKGROUND: The gastrointestinal peptide hormones cholecystokinin and gastrin exert their biological functions via cholecystokinin receptors CCK1R and CCK2R respectively. Gastrin, a central regulator...
BMC Syst Biol - issue: - volume: 9 - pages: 40.


Tripathi, S.  et al. 2015

The gastrin and cholecystokinin receptors mediated signaling network: a scaffold for data analysis and new hypotheses on regulatory mechanisms

BACKGROUND: The gastrointestinal peptide hormones cholecystokinin and gastrin exert their biological functions via cholecystokinin receptors CCK1R and CCK2R respectively. Gastrin, a central regulator...
BMC Syst Biol - issue: - volume: 9 - pages: 40.


Abidi, A.  et al. 2015

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically...
Eur. J. Hum. Genet. - issue: - volume: - pages: .


Kergourlay, V.  et al. 2015

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Ann Clin Transl Neurol - issue: 7 - volume: 2 - pages: 783-784.


Kergourlay, V.  et al. 2015

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Ann Clin Transl Neurol - issue: 7 - volume: 2 - pages: 783-784.


Kergourlay, V.  et al. 2015

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Ann Clin Transl Neurol - issue: 7 - volume: 2 - pages: 783-784.


Kergourlay, V.  et al. 2015

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Ann Clin Transl Neurol - issue: 7 - volume: 2 - pages: 783-784.


Gorokhova, S.  et al. 2015

Clinical massively parallel sequencing for the diagnosis of myopathies

Massively parallel sequencing, otherwise known as high-throughput or next-generation sequencing, is rapidly gaining wide use in clinical practice due to possibility of simultaneous exploration of...
Rev. Neurol. (Paris) - issue: 6-7 - volume: 171 - pages: 558-571.


Delcourt, M.  et al. 2015

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

BACKGROUND: Heterozygous dominant mutations of PRRT2 have been associated with various types of paroxysmal neurological manifestations, including benign familial infantile convulsions and paroxysmal...
J. Neurol. Neurosurg. Psychiatr. - issue: 7 - volume: 86 - pages: 782-785.