Results 191 to 200 of about 374,677 (247)

Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders. [PDF]

Front Genet
Mellone S, Spano A, Vurchio D, Borgonovi G, Ugonotti A, Paglino G, Bianco A, Ronzani S, Sciancalepore M, Prodam F, Papa A, Viri M, Dianzani U, Giordano M.   +13 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Contribution of the different Neisseria gonorrhoeae lipooligosaccharide structural variants to functional responses elicited by GMMA outer membrane vesicles. [PDF]

NPJ Vaccines
Cuffaro R, Buffi G, Romagnoli G, Giuliani M, Proietti D, Zambelli M, Spinsanti M, Manetti AGO, Fabbrini M, Savino S, Giordano G, Delany I, Bartolini E, Ram S, Romano MR, Margarit I, Carboni F.   +16 more
europepmc   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

A specialized reference panel with structural variants integration for improving genotype imputation in Alzheimer disease and related dementias. [PDF]

HGG Adv
Cheng PL, Wang H, Dombroski BA, Farrell JJ, Horng I, Chung T, Tosto G, Kunkle BW, Bush WS, Vardarajan B, Schellenberg GD, Lee WP.   +11 more
europepmc   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

Long-read sequencing reveals that the mitochondrial genome of an individual <i>Ixodiphagus hookeri</i> is a mixture of structural variants with an invariable core region and heterogeneous repeat regions. [PDF]

Curr Res Parasitol Vector Borne Dis
Dirks RP, Jansen HJ, Veneman WJ, Segobola J, Baede VO, Blažeková V, Stanko M, Víchová B, Sprong H.   +8 more
europepmc   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Genome-wide comparison reveals large structural variants in cassava landraces. [PDF]

BMC Genomics
Landi M, Carluccio AV, Shah T, Niazi A, Stavolone L, Falquet L, Gisel A, Bongcam-Rudloff E.   +7 more
europepmc   +1 more source