Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.

Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and...
Front Genet - issue: - volume: 9 - pages: 599.

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.

BACKGROUND: Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With...
Orphanet J Rare Dis - issue: 1 - volume: 13 - pages: 218.

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (?MSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.

BACKGROUND: According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS)...
Mol Genet Genomic Med - issue: 6 - volume: 6 - pages: 1041-1052.

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize...
Methods Mol. Biol. - issue: - volume: 1828 - pages: 489-496.

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.

INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement...
Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.

Background: Active surveillance (AS) has evolved as a management strategy for men with low grade prostate cancer (PCa). However, these patients report anxiety, doubts about the possible progression of...
Oncotarget - issue: 102 - volume: 9 - pages: 37798-37806.

Alternative splicing is dysregulated in cancer cells, driving the production of isoforms that allow tumor cells to survive and continuously proliferate. Part of the reactivation of telomerase involves...
Oncogene - issue: - volume: - pages: .

- issue: - volume: 11 - pages: .

Multidrug-resistant Klebsiella pneumoniae is a nosocomial pathogen, produces septicemia, pneumonia and UTI. Excessive use of antibiotics contributes towards emergence of multidrug-resistance....
Sci Rep - issue: 1 - volume: 8 - pages: 17904.

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res - issue: - volume: - pages: .

BACKGROUND:Facioscapulohumeral muscular dystrophy is a rare inherited neuromuscular disease with an estimated prevalence of 1/20,000 and France therefore harbors about 3000 FSHD patients. With...
- issue: 1 - volume: 13 - pages: .

PURPOSE: To determine whether pre-surgical medical treatment (PSMT) using long-acting Somatostatin analogues in acromegaly may improve long-term surgical outcome and to determine decision making...
Pituitary - issue: 6 - volume: 21 - pages: 615-623.