scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.YMGME.2012.05.016 |
P698 | PubMed publication ID | 22704482 |
P50 | author | Anna Pichiecchio | Q56942623 |
Michela Ponzio | Q73453704 | ||
P2093 | author name string | Sabrina Ravaglia | |
Cesare Danesino | |||
Paola De Filippi | |||
Paola Bini | |||
Guy Umberto Poloni | |||
Kolsoum Saeidi Garaghani | |||
P2860 | cites work | Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II | Q24300206 |
Hand-held myometry: reference values | Q33589439 | ||
Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle | Q33778251 | ||
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating | Q34011226 | ||
A randomized study of alglucosidase alfa in late-onset Pompe's disease | Q34110220 | ||
ATS Statement | Q34136219 | ||
ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies | Q35216222 | ||
ACE polymorphisms | Q36475898 | ||
Pompe's disease | Q37302098 | ||
A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism | Q37779180 | ||
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. | Q42629452 | ||
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy | Q42634296 | ||
Protective role of alpha-actinin-3 in the response to an acute eccentric exercise bout | Q43052273 | ||
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease | Q43121611 | ||
Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension | Q43895522 | ||
Pompe disease: from new views on pathophysiology to innovative therapeutic strategies | Q45866303 | ||
Disease severity in children and adults with Pompe disease related to age and disease duration | Q47772980 | ||
Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful? | Q50781892 | ||
Genotype modulators of clinical severity in McArdle disease. | Q51746266 | ||
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response. | Q51771787 | ||
Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. | Q53422967 | ||
Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. | Q54137734 | ||
Sibling phenotype concordance in classical infantile Pompe disease | Q56658807 | ||
Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy | Q56658809 | ||
PPARα gene variation and physical performance in Russian athletes | Q57243050 | ||
The ACE gene and muscle performance | Q57243110 | ||
Genetic determinism of fiber type proportion in human skeletal muscle | Q57486939 | ||
No Association of the ACTN3 Gene R577X Polymorphism with Endurance Performance in Ironman Triathlons | Q60855096 | ||
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II | Q64042342 | ||
A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease | Q72541490 | ||
The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscle | Q73111165 | ||
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy | Q73747530 | ||
P433 | issue | 1-2 | |
P304 | page(s) | 104-110 | |
P577 | publication date | 2012-05-30 | |
P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
P1476 | title | Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis? | |
P478 | volume | 107 |