Results 61 to 70 of about 91,474 (255)

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]

, 2016
In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core   +1 more source

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements. [PDF]

, 2015
PurposeTo investigate the thickness of the retinal layers and to assess the prevalence of macular microcysts (MM) in the inner nuclear layer (INL) of patients with mitochondrial optic neuropathies (MON).MethodsAll patients with molecularly confirmed MON,
Bandello, Francesco, Barboni, Piero, Borrelli, Enrico, Carbonelli, Michele, Carelli, Valerio, Cascavilla, Maria Lucia, Chicani, Filipe, do V F Ramos, Carolina, La Morgia, Chiara, Parisi, Vincenzo, Sadun, Alfredo A, Salomao, Solange R, Savini, Giacomo, Sebag, Jerry   +13 more
core   +3 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +1 more source

Glaucoma and cigarette smoking: a review of narrative reviews [PDF]

, 2016
Background: Glaucoma is an optic neuropathy associated with visual field changes for which high intra-ocular pressure is a major risk factor. Emerging research indicates that modifiable factors, among which the cigarette smoke, besides IOP may be ...
DI MURRO, FRANCESCA, LA TORRE, Giuseppe, PACELLA, Elena, SMALDONE, GIANPAOLO   +3 more
core   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Two detrimental mutations in cattle mitogenome indicate the presence of Leber's hereditary optic neuropathy [PDF]

Journal of Central European Agriculture, 2019
While mitochondriopathies, mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), are well documented in humans, single pathogenic mtDNA mutation or disorders are unknown in livestock populations.
Dinko Novosel, Vlatka Cubric-Curik, Mojca Simcic, Peter Dovc, Ino Curik   +4 more
doaj   +1 more source

European mtDNA Variants Are Associated With Differential Responses to Cisplatin, an Anticancer Drug: Implications for Drug Resistance and Side Effects. [PDF]

, 2019
Background: Cisplatin, a powerful antitumor agent, causes formation of DNA adducts, and activation of apoptotic pathways. Presently, cisplatin resistance develops in up to 70% of patients but the underlying molecular mechanism(s) are unclear and there ...
Abedi, Sina, Atilano, Shari R, Bota, Daniela, Chang, Steven, Chwa, Marilyn, Jazwinski, S Michal, Kenney, M Cristina, Liu, Catherine, Lu, Stephanie, Miceli, Michael V, Norman, Lucas, Patel, Tej H, Thaker, Kunal, Udar, Nitin   +13 more
core   +1 more source

A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]

, 2017
The accumulation of amyloid β peptide (Aβ) in the brain of Alzheimer's disease (AD) patients begins many years before clinical onset. Such process has been proposed to be pathogenic through the toxicity of Aβ soluble oligomers leading to synaptic ...
Belfiori Carrasco, Lautaro Francisco, Bocai, Nadia Irina, Castaño, Eduardo Miguel, Ceriani, Maria Fernanda, Marcora, Maria Silvina, Morelli, Laura   +5 more
core   +1 more source