Results 71 to 80 of about 1,459,190 (233)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Visual and psychological morbidity among patients with autosomal dominant optic atrophy [PDF]

Acta Ophthalmologica, 2013
Editor, Autosomal dominant optic atrophy (DOA) is the most common inherited optic nerve disorder seen in neuro-ophthalmological practice (Yu-Wai-Man et al. 2011). The majority of patients with DOA harbour pathogenic mutations within the OPA1 gene, which codes for an inner mitochondrial membrane protein intricately involved in mitochondrial ...
Bailie, Maura, Votruba, Marcela, Griffiths, Philip G, Chinnery, Patrick F, Yu-Wai-Man, Patrick   +4 more
openaire   +2 more sources

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Neuroinflammatory Mechanisms of Mitochondrial Dysfunction and Neurodegeneration in Glaucoma

Journal of Ophthalmology, 2021
The exact mechanism of retinal ganglion cell loss in the pathogenesis of glaucoma is yet to be understood. Mitochondrial damage-associated molecular patterns (DAMPs) resulting from mitochondrial dysfunction have been linked to Leber’s hereditary optic ...
Joao N. Duarte
doaj   +1 more source

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.

Human Molecular Genetics
In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well understood.
Paola Zanfardino, A. Amati, S. Doccini, S. Cox, A. Tullo, Giovanna Longo, A. D'Erchia, E. Picardi, C. Nesti, F. Santorelli, V. Petruzzella   +10 more
semanticscholar   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Genetic testing for optic atrophy

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner, rarely in an autosomal recessive manner, with an ...
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

New avenues for therapy in mitochondrial optic neuropathies

Therapeutic Advances in Rare Disease, 2021
Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber’s hereditary optic neuropathy (LHON).
Wing Sum Vincent Ng, Matthieu Trigano, Thomas Freeman, Carmine Varrichio, Dinesh Kumar Kandaswamy, Ben Newland, Andrea Brancale, Malgorzata Rozanowska, Marcela Votruba   +8 more
doaj   +1 more source

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

PLoS ONE, 2021
Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies. This disease is genetically heterogeneous, but most cases are due to pathogenic variants in the OPA1 gene: depending on the population studied, 32-90% of cases ...
Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger   +11 more
doaj   +1 more source

Multimodal Characterization of Glymphatic‐Related Magnetic Resonance Imaging Markers in Huntington's Disease: A Multi‐Cohort Retrospective Study

Annals of Neurology, EarlyView.
Objective To characterize magnetic resonance imaging (MRI)‐based glymphatic surrogates in Huntington's disease (HD) using MRI measures of perivascular diffusivity and structural perivascular alterations across multiple large cohorts. Methods We analyzed 2,731 MRI sessions from 880 participants across 3 large retrospective HD cohorts.
Alexia Solomon, Zexi Wang, Francesco Sanvito, Zheng Zhou, Adys Mendizabal, Jingwen Yao   +5 more
wiley   +1 more source