Results 81 to 90 of about 71,310 (300)

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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Neuropsychiatric manifestations of Fahr′s disease pathogenesis and potential for treatment

Industrial Psychiatry Journal, 2013
Fahr′s disease (FD) is a rare neuropsychiatric disease consisting of bilateral basal ganglia calcification with neurological, cognitive, and psychiatric manifestations. We report here a sporadic case of FDs with its neuropsychology.
Raheel Mushtaq, Sheikh Shoib, M. S. V. K Raju, Nilesh Naphade, Tabindah Shah, Alka Pawar   +5 more
doaj   +1 more source

Dopaminergic receptor agents and the basal ganglia: pharmacological properties and interactions with the GABA-ergic system [PDF]

, 1992
In the present series of studies, attention was focussed particularly on dopaminergic D2 receptor compounds, with emphasis on the enantiomers of the potent and selective dopamine D2 receptor agonist N-0437. Drugs that display activity at D2 receptors are
Timmerman, Wigerline, Timmerman, W
core   +1 more source

Speech temporal organization in three basal ganglia-related neurological conditions

, 2022
Basal ganglia participate in neural networks that control voluntary body movements, including speech. Diseases that affect the function of these structures can generate abnormal hypokinetic or hyperkinetic movements, influencing speech motor control. How
Rui Rothe-Neves (7061534), Thais Helena Machado (10957410), Leandro Pereira (14028171), Ana Cláudia Pereira Bertolino (14028168), Francisco E. C. Cardoso (14028174)   +4 more
core   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Methyl CpG-binding protein 2 participating in the regulation of differentiation plasticity of nerve regeneration in the basal ganglia after ischemic stroke

Chinese Journal of Contemporary Neurology and Neurosurgery, 2013
Background It is accepted that cerebral ischemia induces neurogenesis and neural stem cells (NSCs) differentiation in non-neurogenic regions (especially in the basal ganglia).
Pan LI, Yu-ying ZHOU
doaj  

Our cases of Fahr's disease and review of the literature

Medicine Science
Fahr's disease is defined as idiopathic basal ganglia calcification. Calcinosis develops in the basal ganglia and cerebral cortex due to impaired calcium and phosphorus metabolism.
Sukran Kaygisiz
doaj   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

The cardiovascular risk profile of patients with Primary Familial Brain Calcification

Journal of Rare Diseases
Purpose Primary Familial Brain Calcification (PFBC) is a rare neurologic disease characterized by basal ganglia calcifications. Data on cardiovascular risks in this population are limited.
Birgitta M. G. Snijders, Pim A. de Jong, Mike J. L. Peters, Bouke D. W. T. Lith, Eva H. Brilstra, Ynte M. Ruigrok, Vera P. M. Schepers, Evelien van Valen, Marielle H. Emmelot-Vonk, Huiberdina L. Koek   +9 more
doaj   +1 more source

Familial deep cavitating state with a glutathione metabolism defect

Annals of Clinical and Translational Neurology, 2019
Adult genetic disorders causing brain lesions have been mostly described as white matter vanishing diseases. We present here the investigations realized in patients referred for psychiatric disorder with magnetic resonance imaging showing atypical basal ...
John Rendu, Laetitia Van Noolen, Catherine Garrel, Julie Brocard, Isabelle Marty, Christelle Corne, Julien Fauré, Gérard Besson   +7 more
doaj   +1 more source