MMG PUBLICATIONS

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Results: 2253  publications found.

El Karak, F.  et al. 2015

Pseudo-Guillain-Barré syndrome masking acute myeloid leukemia relapse: Brief report and review

Central nervous system (CNS) relapse is not a rare presentation in acute myeloid leukemia (AML) as its incidence ranges between 2% and 9%. It manifests with meningeal leukemia, cranial nerve palsies...
Leuk Res Rep - issue: 2 - volume: 4 - pages: 42-44.


Choucair, N.  et al. 2015

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well established and the...
Mol Cytogenet - issue: - volume: 8 - pages: 39.


Choucair, N.  et al. 2015

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

BACKGROUND: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and...
Mol Cytogenet - issue: - volume: 8 - pages: 26.


Didier, G.  et al. 2015

Identifying communities from multiplex biological networks

Various biological networks can be constructed, each featuring gene/protein relationships of different meanings (e.g., protein interactions or gene co-expression). However, this diversity is...
- issue: - volume: 3 - pages: e1525.


Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

BACKGROUND: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.


Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

BACKGROUND: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.


Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

BACKGROUND: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.


Leikina, E.  et al. 2015

Annexin A1 Deficiency does not Affect Myofiber Repair but Delays Regeneration of Injured Muscles

Repair and regeneration of the injured skeletal myofiber involves fusion of intracellular vesicles with sarcolemma and fusion of the muscle progenitor cells respectively. In vitro experiments have...
Sci Rep - issue: - volume: 5 - pages: .


Leikina, E.  et al. 2015

Annexin A1 Deficiency does not Affect Myofiber Repair but Delays Regeneration of Injured Muscles

Repair and regeneration of the injured skeletal myofiber involves fusion of intracellular vesicles with sarcolemma and fusion of the muscle progenitor cells respectively. In vitro experiments have...
Sci Rep - issue: - volume: 5 - pages: 18246.


Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

Background: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.


Leikina, E.  et al. 2015

Annexin A1 Deficiency does not Affect Myofiber Repair but Delays Regeneration of Injured Muscles

Repair and regeneration of the injured skeletal myofiber involves fusion of intracellular vesicles with sarcolemma and fusion of the muscle progenitor cells respectively. In vitro experiments have...
Sci Rep - issue: - volume: 5 - pages: 18246.


Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

BACKGROUND: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.


Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

Background: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.


Fatehi, F.  et al. 2015

Dysferlinopathy in Iran: Clinical and genetic report

Background: Dysferlinopathy is caused by a very wide range of autosomal recessively inherited mutations of the Dysferlin gene. It causes a spectrum of muscle diseases including limb-girdle muscular...
J. Neurol. Sci. - issue: 1-2 - volume: 359 - pages: 256-259.


Gorokhova, S.  et al. 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the...
Appl. Transl. Genomics - issue: - volume: 7 - pages: 26-31.


Luciano, D.  et al. 2015

Kommerell Diverticulum Should Be Removed in Children With Vascular Ring and Aberrant Left Subclavian Artery

BACKGROUND: Right aortic arch with aberrant left subclavian artery is the most frequent cause of vascular ring. Ligamentum arteriosus division opens the ring but leaves the Kommerell diverticulum in...
Ann. Thorac. Surg. - issue: 6 - volume: 100 - pages: 2293-2297.


Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.


Capo-Chichi, J.  et al. 2015

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

BACKGROUND: Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In...
Eur J Med Genet - issue: 12 - volume: 58 - pages: 637-641.


Robin, JD.  et al. 2015

SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can...
Genome Res. - issue: 12 - volume: 25 - pages: 1781-1790.


Pilliod, J.  et al. 2015

New Practical Definitions for the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Objective: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the...
Ann. Neurol. - issue: 6 - volume: 78 - pages: 871-886.