Results 201 to 210 of about 691,412 (269)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Gut microbiota drives structural variation of exogenous probiotics to enhance colonization. [PDF]

Gut Microbes
Jiang S, Huang S, Zhang Z, Ma W, Han Z, Song Y, Huo D, Cui W, Zhang J.   +8 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

Structural variation in the pangenome of wild and domesticated barley. [PDF]

Nature
Jayakodi M, Lu Q, Pidon H, Rabanus-Wallace MT, Bayer M, Lux T, Guo Y, Jaegle B, Badea A, Bekele W, Brar GS, Braune K, Bunk B, Chalmers KJ, Chapman B, Jørgensen ME, Feng JW, Feser M, Fiebig A, Gundlach H, Guo W, Haberer G, Hansson M, Himmelbach A, Hoffie I, Hoffie RE, Hu H, Isobe S, König P, Kale SM, Kamal N, Keeble-Gagnère G, Keller B, Knauft M, Koppolu R, Krattinger SG, Kumlehn J, Langridge P, Li C, Marone MP, Maurer A, Mayer KFX, Melzer M, Muehlbauer GJ, Murozuka E, Padmarasu S, Perovic D, Pillen K, Pin PA, Pin PA, Pozniak CJ, Ramsay L, Pedas PR, Rutten T, Sakuma S, Sato K, Schüler D, Schmutzer T, Scholz U, Schreiber M, Shirasawa K, Simpson C, Skadhauge B, Spannagl M, Steffenson BJ, Thomsen HC, Tibbits JF, Nielsen MTS, Trautewig C, Vequaud D, Voss C, Wang P, Waugh R, Westcott S, Rasmussen MW, Zhang R, Zhang XQ, Wicker T, Dockter C, Mascher M, Stein N.   +80 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

SVHunter: long-read-based structural variation detection through the transformer model. [PDF]

Brief Bioinform
Gao R, Hu H, Jiang Z, Cao S, Wang G, Zhao Y, Jiang T.   +6 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

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

Recombination and structural variation in a large 8-founder wheat MAGIC population. [PDF]

G3 (Bethesda)
Shah R, Huang BE, Whan A, Fradgley NS, Newberry M, Verbyla K, Morell MK, Cavanagh CR.   +7 more
europepmc   +1 more source