Results 131 to 140 of about 254,635 (256)

Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features. [PDF]

Hum Genome Var, 2023
Shimojima Yamamoto K, Yoshimura A, Yamamoto T.   +2 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Relative Frequency and Distinctive Features of Anti-Ma2 Nonparaneoplastic Neurologic Disorders: A French Cohort Study. [PDF]

Neurol Neuroimmunol Neuroinflamm
Vaisvilas M, Lafuente-Gómez G, Villagrán-García M, Farina A, Bonjour M, Ciano-Petersen NL, Comperat L, Picard G, Psimaras D, Joubert B, Honnorat J.   +10 more
europepmc   +1 more source

Automatic Speaker Recognition System Based on Gaussian Mixture Models, Cepstral Analysis, and Genetic Selection of Distinctive Features. [PDF]

Sensors (Basel), 2022
Kamiński KA, Dobrowolski AP.
europepmc   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Case Report: Distinctive features of cognitive dysfunction and amelioration by antiseizure medication in neuronal intranuclear inclusion disease. [PDF]

Front Neurosci
Ohara H, Yamanaka M, Okada F, Okazaki A, Dizon MD, Elangovan A, Babu HWS, Iyer M, Vellingiri B, Kinoshita M.   +9 more
europepmc   +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

Unraveling the distinctive features of sour shrimp paste: A comparative analysis with conventional shrimp paste based on aroma and microbiota profiles. [PDF]

Food Chem X
Yang W, Shi J, Gu Y, Lan Y, Duan C, Wang Y.   +5 more
europepmc   +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

Genomic characterisation of endangered Landim pigs reveals distinctive features and immune-related selection. [PDF]

Front Vet Sci
Teixeira F, Sá P, Santos D, Garrine C, Zimba R, Augusto L, Varela-Martínez E, Chiaia H, Sebastino K, Cordeiro JM, Leitão A, Gama LT, Amaral AJ.   +12 more
europepmc   +1 more source