Results 71 to 80 of about 1,452,519 (228)
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]
, 2013 Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E. +101 more
core +2 more sources
Reflex seizures and epilepsy surgery: A network approach case‐based exploration
Epileptic Disorders, EarlyView.Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron +6 more
wiley +1 more source
Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)
American Journal of Ophthalmology, 1993 We examined 25 patients from three pedigrees with dominant optic atrophy (Kjer type). Follow-up on 20 patients ranged from five to 40 years (mean, 16 years; median, 13 years). Visual acuity ranged from 20/20 (in one 58-year-old man with an affected father and three affected children) to 20/400. The median initial visual acuity was 20/60, and the median
D, Eliott, E I, Traboulsi, I H, Maumenee
openaire +2 more sources
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance [PDF]
Human Molecular Genetics, 2001 We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families.
U E, Pesch +8 more
openaire +2 more sources
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
KBG syndrome: A scoping review of electroclinical features of patients with epilepsy
Epileptic Disorders, EarlyView.Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini +6 more
wiley +1 more source
, 2018 Mean PP differential sensitivity values measured by MP1 comparing Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.
Roberto Pietro Sorge (3897154) +10 more
core +1 more source
Orphanet Journal of Rare Diseases, 2017 Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations.
Alessia Nasca +21 more
doaj +1 more source
Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production. [PDF]
PLoS ONE, 2009 Optic atrophy 1 (OPA1) is a dynamin-like GTPase located in the inner mitochondrial membrane and mutations in OPA1 are associated with autosomal dominant optic atrophy (DOA).
Sha Tang +4 more
doaj +1 more source