4.5 Article

Genotype-phenotype correlation in Pompe disease, a step forward

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

L. E. M. van den Berg et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2013)

Review Clinical Neurology

Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review

Antonio Toscano et al.

JOURNAL OF NEUROLOGY (2013)

Article Genetics & Heredity

Phenotypical variation within 22 families with Pompe disease

Stephan C. A. Wens et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

Article Sport Sciences

Is PPARα intron 7 G/C polymorphism associated with muscle strength characteristics in nonathletic young men?

S. Broos et al.

SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS (2013)

Article Genetics & Heredity

The genotype-phenotype correlation in Pompe disease

Marian Kroos et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)

Article Cardiac & Cardiovascular Systems

Inhibition of Notch2 by Numb/Numblike controls myocardial compaction in the heart

Jiwen Yang et al.

CARDIOVASCULAR RESEARCH (2012)

Article Geriatrics & Gerontology

The effect of α-actinin-3 deficiency on muscle aging

Jane T. Seto et al.

EXPERIMENTAL GERONTOLOGY (2011)

Article Geriatrics & Gerontology

The Functional ACTN3 577X Variant Increases the Risk of Falling in Older Females: Results From Two Large Independent Cohort Studies

Robert N. Judson et al.

JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES (2011)

Review Sport Sciences

The ACE Gene and Human Performance 12 Years On

Zudin Puthucheary et al.

SPORTS MEDICINE (2011)

Article Medicine, General & Internal

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease.

Ans T. van der Ploeg et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Nutrition & Dietetics

The C allele of the AGT Met235Thr polymorphism is associated with power sports performance

Felix Gomez-Gallego et al.

APPLIED PHYSIOLOGY NUTRITION AND METABOLISM-PHYSIOLOGIE APPLIQUEE NUTRITION ET METABOLISME (2009)

Article Genetics & Heredity

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease

Kanako Sugawara et al.

JOURNAL OF HUMAN GENETICS (2009)

Article Endocrinology & Metabolism

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

P. R. Joshi et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Review Medicine, General & Internal

Lysosomal storage disease 2 - Pompe's disease

Ans T. van der Ploeg et al.

LANCET (2008)

Article Sport Sciences

The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease

F. Gomez-Gallego et al.

BRITISH JOURNAL OF SPORTS MEDICINE (2008)

Article Biophysics

Angiotensin-converting enzyme genotype and successful ascent to extreme high altitude

Julian Thompson et al.

HIGH ALTITUDE MEDICINE & BIOLOGY (2007)

Review Genetics & Heredity

Sibling phenotype concordance in classical infantile Pompe disease

Wendy E. Smith et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Endocrinology & Metabolism

Glycogen storage disease type II in Spanish patients:: High frequency of c.1076-1G>C mutation

Laura Gort et al.

MOLECULAR GENETICS AND METABOLISM (2007)

Article Neurosciences

Genotype modulators of clinical severity in McArdle disease

Juan C. Rubio et al.

NEUROSCIENCE LETTERS (2007)

Article Physiology

Biomechanical muscle properties and angiotensin-converting enzyme gene polymorphism: a model-based study

Heiko Wagner et al.

EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY (2006)

Article Physiology

ACTN3 and MLCK genotype associations with exertional muscle damage

PM Clarkson et al.

JOURNAL OF APPLIED PHYSIOLOGY (2005)

Article Clinical Neurology

Phenotype modulators in myophosphorylase deficiency

A Martinuzzi et al.

ANNALS OF NEUROLOGY (2003)

Article Biochemistry & Molecular Biology

The human acid α-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway

B Yan et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Article Multidisciplinary Sciences

Genetically increased angiotensin I-converting enzyme level and renal complications in the diabetic mouse

W Huang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)