Results 61 to 70 of about 207,744 (307)

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Educational Case: Autosomal Dominant Polycystic Kidney Disease

Academic Pathology, 2020
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ryan L. Frazier BS, Alison R. Huppmann MD   +1 more
doaj   +1 more source

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations

Frontiers in Genetics, 2022
B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. In 2012,
Fang Shen, Yongjia Yang, Yu Zheng, Ming Tu, Liu Zhao, Zhenqing Luo, Yuyan Fu, Yimin Zhu, Yimin Zhu   +8 more
doaj   +1 more source

Autosomal dominant intellectual disability [PDF]

Medizinische Genetik, 2018
Abstract Intellectual disability (ID) is a heterogeneous entity defined as a substantial impairment of cognitive and adaptive function with an onset in early childhood and an IQ measure of less than 70. During the last few years, the next generation technologies, namely whole exome (WES) and whole genome ...
openaire   +2 more sources

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

The impact of tolvaptan on autosomal dominant polycystic kidney disease – literature review

Studia Medyczne
This article presents current data from international literature on the impact of tolvaptan on autosomal dominant polycystic kidney disease (ADPKD). The authors have reviewed the latest clinical research literature.
Anna Gruszczyńska, Krzysztof Kowalik, Grażyna Dutkiewicz, Anna Rakoczy, Andrzej Modrzejewski   +4 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Autosomal Dominant Epilepsy Syndrome Linked to 2p11

Pediatric Neurology Briefs, 2002
A newly recognized autosomal dominant epilepsy syndrome with linkage to chromosome 2p11.1-q12.2 is described in an Italian pedigree of 8 patients reported from the Neurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for ...
J Gordon Millichap
doaj   +1 more source

Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis

, 2002
Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene.
Stephenson, Peter, Wallace, D.F., Subramaniam, V. Nathan, Stephenson, P., Searle, J.W., Dixon, Jeannette L., Powell, Lawrie W., Pedersen, P., Pedersen, Palle, Dixon, J.L., Powell, L.W., Wallace, Daniel F., Searle, Jeffrey W., Subramaniam, V.N.   +13 more
core   +1 more source