Results 91 to 100 of about 202,258 (245)

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Early Clinical and Cerebrospinal Fluid Predictors of 1‐Year Recurrence in Autoimmune GFAP Astrocytopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong, Yuping Xiao, Yuhan Wu, Ziyuan Huang, Weishan Liang, Li Xiao, Yaqing Shu, Tingting Lu, Yanyu Chang, Wei Qiu, Yuge Wang   +10 more
wiley   +1 more source

Copine‐4 Paraneoplastic Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We characterize copine‐4 (CPNE4)‐IgG and report clinical associations. Among 844 samples with unclassified neural IgGs identified by mouse‐brain indirect immunofluorescence assay over 2 years, 5 samples (serum, 3; CSF, 2) from 3 patients produced a distinctive cerebrum‐restricted synaptic pattern.
Mimi S. Fang, Amy Ml Quek, Clement Yong, Amir Adeli, Gabrielle N. Conway, Connie E. Lesnick, Diana Anissian, Divyanshu Dubey, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael Gilligan, Andrew McKeon   +12 more
wiley   +1 more source

A Scoping Review and Meta‐Analysis of Proportions of Central Nervous System Manifestations Reported in Patients with Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective The objective of this scoping review was to synthesize evidence on the proportion of individuals living with Sjögren's disease who experience central nervous system (CNS) manifestations. Methods We searched MEDLINE (via PubMed) and Embase from 1980 through January 29, 2026, and the ECRI Guidelines Trust from 2020 through January 29, 2026 ...
Arun Varadhachary, Ghaith Noaiseh, Julie Frantsve‐Hawley, Frederick B. Vivino, Jennifer A. McCombe, Shamik Bhattacharyya, E. Sherwood Brown, Andrew R. Carey, Robert Fox, Thomas Grader‐Beck, Janet E. Lewis, Stephen Maitz, Steven Mandel, Astrid Rasmussen, George Sarka, R. Hal Scofield, Daniel J. Wallace, Rochelle Zak, Kristie Cox, Katherine M. Hammitt, Steven Carsons, Nancy Carteron   +21 more
wiley   +1 more source

Emerging antioxidant therapies in Friedreich’s ataxia

Frontiers in Pharmacology
Friedreich’s ataxia (FRDA) is a rare childhood neurologic disorder, affecting 1 in 50,000 Caucasians. The disease is caused by the abnormal expansion of the GAA repeat sequence in intron 1 of the FXN gene, leading to the reduced expression of the ...
Fred Jonathan Edzeamey, Zenouska Ramchunder, Charareh Pourzand, Charareh Pourzand, Sara Anjomani Virmouni   +4 more
doaj   +1 more source

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Tremor and Other Hyperkinetic Movements, 2016
Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj   +1 more source

ATAXIA-TELANGIECTASIA - A CASE REPORT [PDF]

, 2005
RESUMO A ataxia-telengiectasia (AT) é uma doença genética, autossómica recessiva, causada pela mutação do gene ATM, localizado no cromosoma 11q22-23.
Veiga, E., Gaspar, M., Fonseca, M., Caturra, L.   +3 more
core  

Fabrication Routes for Ionic Conducting Fiber Strain Sensors

Advanced Engineering Materials, EarlyView.
Ionic conducting fiber strain sensors (ICFSs) offer compliant, textile‐integrable sensing. Thus far, the commercialization of ICFSs has been constrained by fiber fabrication routes. This review provides a fabrication‐centric analysis of ICFSs correlating processing strategies with material properties and scalability.
Leo John Kershaw, Zhanhong Yang, Anne Ladegaard Skov, Magdalena Skowyra   +3 more
wiley   +1 more source

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan [PDF]

, 2009
16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of
Sato, Shunichi, Shimizu, Yusaku, Sakai, Haruya, Okano, Tomomi, Ikeda, Shu-ichi, Hattori, Takeshi, Ohara, Shinji, Tabata, Kenichi, Matsumoto, Naomichi, Inoue, Atsushi, Morita, Hiroshi, Ushiyama, Masao, Nakamura, Katsuya, Tazawa, Ko-ichi, Shimojima, Yasuhiro, Yoshida, Kunihiro, Ohata, Takako   +16 more
core   +1 more source