Results 191 to 200 of about 59,501 (281)

Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report. [PDF]

Neurogenetics
Lokar M, Georgiev KJ, Rus T, Gregorič N, Peterlin B, Pušenjak MŠ, Georgiev D.   +6 more
europepmc   +1 more source

Effectiveness and safety of efgartigimod in patients with anti‐NMDAR or anti‐LGI1 encephalitis and its 18F‐DPA714 PET imaging evaluation: A multicenter, single‐arm, prospective, observational real‐world study

Neuroprotection, EarlyView.
Abstract Background Efgartigimod disrupts the recycling of pathogenic IgG autoantibodies and may represent a candidate therapy for autoimmune encephalitis. This real‐world study evaluated the clinical efficacy, safety, and impact of efgartigimod on brain inflammation.
Huanyu Meng, Siqi Tu, Yifan Zhou, Ruinan Shen, Xiaoyu Chen, Zhaozhao Cheng, Limei Wang, Yan Wu, Jie Lu, Shengjun Wang, Yan Xu, Wanhui Lin, Sheng Chen   +12 more
wiley   +1 more source

Comprehensive description of clinical features of laryngeal dystonia and dystonic vocal tremor. [PDF]

Acta Otorhinolaryngol Ital
Marchese MR, D'Alatri L, Rodolico D, Galli J.   +3 more
europepmc   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Genetic assessment of consecutively recruited dystonia cases from a single center. [PDF]

Neurogenetics
Atasu B, Simón-Sánchez J, Hauser AK, Heutink P, Gasser T, Lohmann E.   +5 more
europepmc   +1 more source

Polypharmacy among adolescents and adults with cerebral palsy in a clinical setting

PM&R, EarlyView.
Abstract Background Adolescents and adults with cerebral palsy often experience multimorbidity related to their condition, which primarily affects movement and posture but is also associated with pain, epilepsy, mood disorders, and other conditions. As such, these patients are often prescribed a range of medications to manage symptoms, thereby putting ...
Caitlin Cassidy, Joshua C. Wiener, Karen Pratt, Laura Brunton   +3 more
wiley   +1 more source

Phenotypic features of paroxysmal dyskinesia in Dachshund dogs: 62 cases (2017-2025). [PDF]

J Vet Intern Med
Boyd B, Corsini G, Polidoro D, Bhatti SFM, Grapes N, Alza D, Motta L, Formoso S, De Decker S, Bertram S, Gilbert S, Karpozilou A, Douralidou D, Santifort K, De Frias JM, Bongers J, Kaczmarska A, Liatis T.   +17 more
europepmc   +1 more source

PINK1‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation

Movement Disorders, EarlyView.
Reza Maroofian, Ross Leng, Shilpan G. Patel, Hina Ojha, Heba Hosny, Maha Zaki, Miratul M.K. Muqit, Henry Houlden   +7 more
wiley   +1 more source

Vibratory Characteristics and Quantitative Parameters of Laryngeal Dystonia: A Scoping Review of High‐Speed Videoendoscopy Studies

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To review the clinical application and quantitative parameters of high‐speed videoendoscopy (HSV) in evaluating vocal fold kinematics in patients with laryngeal dystonia (LD), to summarize the limitations of existing studies, and to provide a reference for future clinical standardization.
Yuan‐Jia Hu, Jia Song, Sen‐Nian Zheng, Lu Xing, Yu‐Jie Feng, Sheng‐Tao Wu, Shu‐Yi Zeng, Ying‐Shan Tan, Qiu‐Tong Chen, Pei‐Yun Zhuang   +9 more
wiley   +1 more source

Decreasing Trends in Birth Prevalence and Severity of Cerebral Palsy in Sweden During 2000–2019: A Population‐Based Registry Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To examine temporal trends in cerebral palsy (CP) birth prevalence and changes in functional severity in Sweden between 2000 and 2019. Methods This population‐based registry study included all children with CP born in Sweden between 2000 and 2019. Annual CP birth prevalence was calculated using Poisson regression.
Semhal Getachew Teka, Gunnar Hägglund, Ann I. Alriksson‐Schmidt   +2 more
wiley   +1 more source