Results 131 to 140 of about 4,670,463 (363)

The role of astrocytic glutamate transporters GLT-1 and GLAST in neurological disorders: potential targets for neurotherapeutics

Neuropharmacology, 2019
Glutamate is the primary excitatory neurotransmitter in the central nervous system (CNS) that initiates a rapid signal transmission in the synapse before its re-uptake into the surrounding glia, specifically astrocytes.
E. Pajarillo, Asha Rizor, Jayden Lee, M. Aschner, Eun-Jin Leea   +4 more
semanticscholar   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Integrative multi-omics analysis identifies genetically supported druggable targets and immune cell specificity for myasthenia gravis

Journal of Translational Medicine
Background Myasthenia gravis (MG) is a chronic autoimmune disorder characterized by fluctuating muscle weakness. Despite the availability of established therapies, the management of MG symptoms remains suboptimal, partially attributed to lack of efficacy
Jiao Li, Fei Wang, Zhen Li, Jingjing Feng, Yi Men, Jinming Han, Jiangwei Xia, Chen Zhang, Yilai Han, Teng Chen, Yinan Zhao, Sirui Zhou, Yuwei Da, Guoliang Chai, Junwei Hao   +14 more
doaj   +1 more source

EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts [PDF]

, 2001
If the gene causing a neurologic disorder is known, direct molecular diagnosis can be performed by mutational analysis. Only DNA from the affected individual is required. Usually, exons which are known to harbour mutations in the particular disorder will be amplified from DNA which has been extracted from peripheral blood leucocytes by PCR. Depending on its type, the mutation will then be detected either directly by gel electrophoresis, digestion by restriction enzymes or by direct sequencing. If a gene is very large (genes with more than 30 exons are not uncommon) and mutations are scattered throughout the entire gene, direct mutational analysis can be very costly and time-consuming. In these cases, R Gené, where mutations may be clustered e.g. in CADASIL, where 70% of mutations are found in exons 3 and 4 of the Notch3 gene).   +8 more
openalex   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Chinese neuroimmunological disease (NIDBase) cohort study: cohort profile

BMJ Open
Purpose The Chinese neuroimmunological disease database (NIDBase) cohort was established to explore genetic and environmental risk factors, clinical features, multi-omics data and prognostic biomarkers.
Zheng Liu, Jiangwei Xia, Siqi Chen, Ming Lin, Junwei Hao, Dawei Li, Yinan Zhao, Jinming Han, Yuqi Tang, Zhandong Qiu, Huiqing Dong, Mengyao Zhang, Teng Chen, Shishuang Ruan, Qiujia Wang, Yi Men, Ruiping Gao, Hanyue Zheng, Jiajian Li, Yuan Qi, Yingtao Wang, Xixi Yang   +21 more
doaj   +1 more source

Proteomic analysis of cortical neuronal cultures treated with poly-arginine peptide-18 (R18) and exposed to glutamic acid excitotoxicity

Molecular Brain, 2019
Poly-arginine peptide-18 (R18) has recently emerged as a highly effective neuroprotective agent in experimental stroke models, and is particularly efficacious in protecting cortical neurons against glutamic acid excitotoxicity.
Gabriella MacDougall, Ryan S. Anderton, Frank L. Mastaglia, Neville W. Knuckey, Bruno P. Meloni   +4 more
doaj   +1 more source

Evaluation of Neurological Disorder Using Computed Tomography and Magnetic Resonance Imaging

, 2021
Saeed M. Bafaraj
openalex   +2 more sources

Validity of a Wearable Digital Insole for Assessing Gait ON and OFF in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Gait impairment is a distinctive symptom of Parkinson's disease that negatively impact mobility. We assessed the validity of wearable digital insoles against a validated reference gait analysis system for measuring select gait characteristics in patients with Parkinson's disease. Methods A comparative analysis between digital insoles
Deborah A. Hall, Kimberly Kwei, Rolando J. Acosta, Bharatkumar Koyani, Erin Robertson, Pratyush Rai, Roland Barge, Emily Timm, Nicollette L. Purcell, Natasha Desai, Dhanesh Patel, Ana‐Maria Visoiu‐Knapp, Samuel Stuart, Rinol Alaj, Matthew F. Wipperman, Oren Levy, Joan A. O'Keefe   +16 more
wiley   +1 more source

The effect of changes in society, economy and public health on the disease burden of neurological, mental and substance use disorders: a global longitudinal study [PDF]

, 2019
Yankun Sun, Yao Yao, Yanping Bao, Yan Sun, Le Shi, Jie Shi, Lin Lü   +6 more
openalex   +1 more source