MMG PUBLICATIONS

Use the tool below to browse our publications by keywords or/and by team or/and by year.

Follow then the link to consult a publication on PUBMED website.



Search publications





Results: 2258  publications found.

Bannwarth, S.  et al. 2015

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

WOS:000365136200006
Brain - issue: - volume: 138 - pages: E386-U20.


Bannwarth, S.  et al. 2015

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

WOS:000365136200006
Brain - issue: - volume: 138 - pages: E386-U20.


Rostomyan, L.  et al. 2015

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a...
Endocr. Relat. Cancer - issue: 5 - volume: 22 - pages: 745-757.


Milh, M.  et al. 2015

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

Mutations in the KCNQ2 gene, encoding a potassium channel subunit, were reported in patients presenting epileptic phenotypes of varying severity. Patients affected by benign familial neonatal epilepsy...
Am. J. Med. Genet. A - issue: 10 - volume: 167A - pages: 2314-2318.


Rapetti-Mauss, R.  et al. 2015

A mutation in the Gardos channel is associated with hereditary xerocytosis

The Gardos channel is a Ca2+-sensitive, intermediate conductance, potassium selective channel expressed in several tissues including erythrocytes and pancreas. In normal erythrocytes, it is involved...
Blood - issue: 11 - volume: 126 - pages: 1273-1280.


Durst, R.  et al. 2015

Mutations in DCHS1 cause mitral valve prolapse

Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40 individuals(1-3). It can manifest as mitral regurgitation and is the leading indication for mitral valve...
Nature - issue: 7567 - volume: 525 - pages: 109-+.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

- issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Barthélémy, F.  et al. 2015

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes. They are associated with molecular defects in DYSF, which encodes dysferlin, a...
J Neuromuscul Dis - issue: 3 - volume: 2 - pages: 281-290.


Doummar, D.  et al. 2015

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Mov. Disord. - issue: 10 - volume: 30 - pages: 1431-1432.


Doummar, D.  et al. 2015

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

Mov. Disord. - issue: 10 - volume: 30 - pages: 1431-1432.


Bannwarth, S.  et al. 2015

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

WOS:000361396200003
Brain - issue: - volume: 138 - pages: e377.


Mariot, V.  et al. 2015

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant...
Ann. Neurol. - issue: 3 - volume: 78 - pages: 387-400.