MMG PUBLICATIONS

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Results: 3193  publications found.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Mathers, JC.  et al. 2012

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

Background Observational studies report that higher intake of dietary fibre (a heterogeneous mix including non-starch polysaccharides and resistant starches) is associated with reduced risk of...
Lancet Oncol. - issue: 12 - volume: 13 - pages: 1242-1249.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Lemmers, RJLF.  et al. 2012

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. The more...
Nat. Genet. - issue: 12 - volume: 44 - pages: 1370-1374.

Grandval, P.  et al. 2012

Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?

Several studies report an increased risk of breast/pancreatic cancer in MMR (DNA mismatch repair) mutation carriers that has significant consequences on standard cancer screening in such population....
Fam. Cancer - issue: 4 - volume: 11 - pages: 681-683.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Kannan, MA.  et al. 2012

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic...
Neurol India - issue: 6 - volume: 60 - pages: 631-634.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Eyrnard, B.  et al. 2012

Diagnostic strategy for limb-girdle muscular dystrophies

Limb-girdle muscular dystrophies represent a major chapter of genetic myopathies. Many different entities have been identified, most of them with recessive transmission, a minority with dominant...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 919-926.

Van Vliet, P.  et al. 2012

Early cardiac development: a view from stem cells to embryos

From the 1920s, early cardiac development has been studied in chick and, later, in mouse embryos in order to understand the first cell fate decisions that drive specification and determination of the...
Cardiovasc. Res. - issue: 3 - volume: 96 - pages: 352-362.

Lamine, F.  et al. 2012

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best...
Pituitary - issue: - volume: 15 Suppl 1 - pages: S81-86.

De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

WOS:000311615100035
Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Van Vliet, P.  et al. 2012

Early cardiac development: a view from stem cells to embryos

From the 1920s, early cardiac development has been studied in chick and, later, in mouse embryos in order to understand the first cell fate decisions that drive specification and determination of the...
Cardiovasc Res - issue: 3 - volume: 96 - pages: 352-362.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Horn, M.  et al. 2012

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

Studying the function and malfunction of genes and proteins associated with inherited forms of peripheral neuropathies has provided multiple clues to our understanding of myelinated nerves in health...
Brain - issue: Pt 12 - volume: 135 - pages: 3567-3583.

De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

WOS:000311615100035
Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

Attarian, S.  et al. 2012

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle...
Rev. Neurol. - issue: 12 - volume: 168 - pages: 910-918.

De Paula, AM.  et al. 2012

Further heterogeneity in myopathy with tubular aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.

De Paula, AM.  et al. 2012

Further Heterogeneity in Myopathy with Tubular Aggregates?

Muscle Nerve - issue: 6 - volume: 46 - pages: 984-985.