Results 31 to 40 of about 717,864 (344)
Frontiers in Aging Neuroscience, 2021 Leukodystrophies are a heterogeneous group of inherited disorders with highly variable clinical manifestations and pathogenetic backgrounds. At present, variants in more than 20 genes have been described and may be responsible for different types of ...
Yi-Hui Liu +10 more
doaj +1 more source
A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]
, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna +6 more
core +2 more sources
The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]
, 2013 Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction.
Calo, Laura +14 more
core +4 more sources
Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy
Frontiers in Neurology, 2022 The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the ...
Guilan Chen +10 more
doaj +1 more source
Cardiac manifestations of PRKAG2 mutation. [PDF]
, 2018 BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza +3 more
core +1 more source
BRAF, KIT, and NRAS Mutations of Acral Melanoma in White Patients
American Journal of Clinical Pathology, 2020 Abstract Objectives Malignant acral melanoma (AM) is relatively infrequent in white patients. Molecular investigations have returned variable results regarding the mutational pattern. We sought to describe the mutation profile and clinicopathologic features of AM.
Dika, Emi +12 more
openaire +4 more sources
Identification of novel therapeutic targets in the PI3K/AKT/mTOR pathway in hepatocellular carcinoma using targeted next generation sequencing. [PDF]
, 2014 Understanding genetic aberrations in cancer leads to discovery of new targets for cancer therapies. The genomic landscape of hepatocellular carcinoma (HCC) has not been fully described. Therefore, patients with refractory advanced/metastatic HCC referred
Janku, Filip +4 more
core +3 more sources
BMC Genomics, 2020 Background Gang goose is a native species with gray plumage in Sichuan, China. As a result of overhunting, the number of gray Gang geese has decreased dramatically. To keep the species from extinction, conservation work for Gang geese was undertaken.
Yang Xi +10 more
doaj +1 more source
Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China
BMC Musculoskeletal Disorders, 2021 Background Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene.
Lin Chen +8 more
doaj +1 more source
, 2020 We describe and investigate a connection between the topology of isolated singularities of plane curves and the mutation equivalence, in the sense of cluster algebra theory, of the quivers associated with their morsifications.Comment: Major revision and ...
Fomin, Sergey +3 more
core +1 more source