Results 151 to 160 of about 253,035 (314)

The molecular genetics of the mouse Iβ-1,6-N-acetylglucosaminyltransferase locus [PDF]

, 2003
Yuh‐Ching Twu, Ming-Lun Chou, Lung-Chih Yu   +2 more
openalex   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

On the analysis of genetic association with long-read sequencing data. [PDF]

PLoS Genet
He G, Scherer SW, Strug LJ.
europepmc   +1 more source

The Ph2 pairing homoeologous locus of wheat (Triticum aestivum): identification of candidate meiotic genes using a comparative genetics approach [PDF]

, 2003
Tim Sutton, Ryan Whitford, Ute Baumann, Chongmei Dong, Jason A. Able, Peter Langridge   +5 more
openalex   +1 more source

Altered Dynamic Functional Network Connectivity in Post‐Stroke Aphasia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous studies examining post‐stroke aphasia (PSA) patients via resting‐state functional magnetic resonance imaging (rs‐fMRI) have predominantly focused on static functional connectivity. In contrast, the current investigation aims to elucidate the alterations in dynamic functional network connectivity (dFNC) among PSA patients ...
Guihua Xu, Yongsheng Wu, Junyu Qu, Rui Zhu, Wenwen Xu, Jiaxiang Xin, Dawei Wang   +6 more
wiley   +1 more source

Global epistasis in budding yeast driven by many natural variants whose effects scale with fitness. [PDF]

Genetics
Goldstein I, Hale JJ, Ehrenreich IM.
europepmc   +1 more source

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca   +7 more
wiley   +1 more source

Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis. [PDF]

Neurol Neuroimmunol Neuroinflamm
Pukaj A, Harroud A, Shchetynsky K, Wirsching L, Peters L, Andlauer TFM, Pääkkönen K, Bos SD, Moylett S, Dubois B, Llufriu S, Luessi F, Tackenberg B, Kowarik MC, Then Bergh F, Trebst C, Tumani H, Wildemann B, Bayas A, Havla J, Kümpfel T, Knop M, Genetics Center R, Stridh P, Hillert JA, Olsson T, Alfredsson L, Cotsapas C, Flinstad Harbo H, Zipp F, Saarela J, Baranzini SE, Berthele A, Kockum I, Hemmer B, Gasperi C, MultipleMS consortium.   +36 more
europepmc   +1 more source

Genetics of the APM1 Locus and Its Contribution to Type 2 Diabetes Susceptibility in French Caucasians [PDF]

, 2004
F A Gibson, Philippe Froguel
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source