Results 211 to 220 of about 554,004 (364)

Diagnostic efficiency of whole exome sequencing in the search for genetic causes of hereditary diseases in Yugra (West Siberia, Russia). [PDF]

Vavilovskii Zhurnal Genet Selektsii
Donnikov MY, Suchko PA, Morozkina AV, Kolbasin LN, Popova EA, Papanov SI, Koshevaya YS, Danilov LG, Eismont YA, Glotov OS, Kovalenko LV.   +10 more
europepmc   +1 more source

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.

Human Molecular Genetics, 2013
M. Kennerson, E. Yiu, D. Chuang, A. Kidambi, S. Tso, C. Ly, Rabia Chaudhry, Alexander P. Drew, G. Rance, M. Delatycki, S. Züchner, M. Ryan, G. Nicholson   +12 more
semanticscholar   +1 more source

CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang, Yujie Liu, Fei Li, Xuelin Li, Lanlan Li, Jie Zhang, Yali Xu   +6 more
wiley   +1 more source

Secondary punctate inner choroidopathy in an RP2 associated retinopathy female carrier. [PDF]

J Ophthalmic Inflamm Infect
Roig-Ferreruela G, Uncetabarrenechea-Larrucea S, Aramberri-Araiz M, Valsero-Franco S, Artaraz J, Carreño E, Fonollosa A.   +6 more
europepmc   +1 more source

Characterising the clinical, genetic, and psychosocial impact of female carriers of X-linked inherited retinal diseases

© 2024 Sena Ayse GocukInherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss due to genetic mutations. Inheritance patterns vary, with some conditions X-linked – these primarily affect males (who have
Gocuk, Sena Ayse
core  

Impact of Asymptomatic Intracranial Hemorrhage on Outcome After Endovascular Stroke Treatment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Endovascular treatment (EVT) achieves high rates of recanalization in acute large‐vessel occlusion (LVO) stroke, but functional recovery remains heterogeneous. While symptomatic intracranial hemorrhage (sICH) has been well studied, the prognostic impact of asymptomatic intracranial hemorrhage (aICH) after EVT is less certain ...
Shihai Yang, Chengsong Yue, Zhuang Li, Xiaolei Shi, Haoxuan Zhu, Jie Yang, Linyu Li, Jiaxing Song, Shitao Fan, Gaoming Li, Wenzhe Sun, Zhixian Ye, Jiacheng Huang, Dahong Yang, Jinfu Ma, Xu Xu, Zhixi Wang, Lilan Wang, Guojian Liu, Fengli Li, Changwei Guo, Li Qi, Wenjie Zi   +22 more
wiley   +1 more source

Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing. [PDF]

Sci Rep
Lu YT, Tran UV, Tran HT, Nguyen TL, Nguyen TM, Vu CD, Ta TA, Nguyen TT, Hoang LP, Pham AN, Vu PM, Cam PN, Dao Thi T, Nguyen KT, Nguyen TL, Tran KT, Nguyen KV, Nguyen YN, Le LT, Do TT, Nguyen HN, Hoang TN, Giang H, Tang HS.   +23 more
europepmc   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the <i>PHEX</i> Gene. [PDF]

Hum Mutat
Li D, Peng W, Kang L, Geng J, Lu Y, Lu J.   +5 more
europepmc   +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