Associated Papers
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
Spadafora P et al.
International Journal of Molecular Sciences, 2022
Muscle biochemical and pathological diagnosis in Pompe disease.
Saito Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Goomber S et al.
Frontiers in Genetics, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
In 't Groen SLM et al.
Molecular Therapy. Methods & Clinical Development, 2020
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 2019
[Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
Guevara-Campos J et al.
Revista De Neurologia, 2013
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Wan L et al.
Journal of Neurology, 2008
Molecular genetics of late onset glycogen storage disease II in Italy.
Pittis MG et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Pipo JR et al.
Pediatric Neurology, 2003