Results 221 to 230 of about 254,836 (309)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Genome-Wide Detection of Copy Number Variation and Association Studies With Physiological and Anatomical Indicators of Heat Stress Response in Lactating Sows. [PDF]

J Anim Breed Genet
de Oliveira LF, Veroneze R, Benfica LF, Araujo AC, Huang Y, Johnson JS, Brito LF.   +6 more
europepmc   +1 more source

A sex chromosome inversion is associated with copy number variation of mitochondrial DNA in zebra finch sperm

, 2019
Ulrich Knief, Wolfgang Forstmeier, Bart Kempenaers, Jochen B. W. Wolf   +3 more
openalex   +1 more source

Copy Number Variation (CNV) [PDF]

, 2019
openaire   +1 more source

Refractory Status Epilepticus Treated With Bilateral Pulvinar Deep Brain Stimulation—A Case Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT New‐onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%–27% mortality rate and significant long‐term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional ...
Mengxuan Tang, Amerta Bai, Felipe Rodridgues Marques Ferreira, Sandipan Pati, Thaddeus Walczak, Benjamin Miller, Oladi Bentho, Thomas Henry, Ilo Leppik, Minoo Shams, Zhiyi Sha, Zachary Sanger, Theoden I. Netoff, Thomas Lisko, Anant Naik, Robert McGovern III, Sima Patel   +16 more
wiley   +1 more source

CCNV: a user-friendly R package enabling large-scale cumulative copy number variation analyses of DNA methylation data. [PDF]

BMC Bioinformatics
Gocke A, Schumann Y, Navolić J, Godbole S, Schoof M, Dottermusch M, Neumann JE.   +6 more
europepmc   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

Correction: Experience of copy number variation sequencing applied in spontaneous abortion. [PDF]

BMC Med Genomics
Dai YF, Wu XQ, Huang HL, He SQ, Guo DH, Li Y, Lin N, Xu LP.   +7 more
europepmc   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Intranodal palisaded myofibroblastoma shows a unique epigenetic profile-first molecular study of their epigenetic and copy number variation profile. [PDF]

Virchows Arch
Leisz S, Scheer M, Hildebrandt U, Wiegers M, Strauss C, Scheller C, Mentzel T, von Deimling A, Harder A.   +8 more
europepmc   +1 more source