Results 61 to 70 of about 640,277 (286)
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
BMC Pediatrics, 2023 Background Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa ...
Hua-yong Zhang, Min Xiao, Yong Zhang
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
, 2012 We have identified a novel homozygous nonsense mutation (W 516X) in the kidney-type electrogenic sodium bicarbonate cotransporter 1 (NBC1) in a patient with isolated proximal renal tubular acidosis (pRTA). To specifically address the pathogenesis of this
Lo, Yi-Fen; Yang, Sung-Sun; Seki, George; Yamada, Hideomi; Horita, Shoko; Yamazaki, Osamu; Fujita, Toshiro; Usui, Tomohiko; Tsai, Jeng-Daw; Yu, I-Shing; Lin, Shu-Wha; Lin, Shih-Hua +1 more
core +1 more source
Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane +19 more
wiley +1 more source
A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
Journal of Current Ophthalmology, 2018 Purpose: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus.
Ali Torkashvand +2 more
doaj +1 more source
Nonsense mutations in the can1 locus of Saccharomyces cerevisiae [PDF]
Journal of Bacteriology, 1983 Yeast mutants resistant to L-canavanine were selected. All were recessive and fell into the can1 complementation group. Nonsense mutations were identified among them by using a set of different suppressors. Frequencies of UAA, UAG, and presumed UGA mutations were 14.8, 0.8, and 0.4%, respectively.
B I, Ono, Y, Ishino, S, Shinoda
openaire +2 more sources
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia
Molecular Genetics & Genomic MedicineBackground Familial hypercholesterolemia (FH) is a hereditary disease caused mainly by mutations in the gene encoding the low‐density lipoprotein receptor (LDLR).
Kaihan Wang +6 more
doaj +1 more source