Results 91 to 100 of about 62,047 (246)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Mutation spectrum in epilepsy and seizure disorders in a group of Emirati patients: a retrospective cohort study and literature review

Egyptian Journal of Medical Human Genetics
Background Epilepsy is a major neurological disorder worldwide, with common risk factors identified including consanguinity, family history, and history of perinatal infections or insults.
Aisha AlShamsi, Sema Koruturk
doaj   +1 more source

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

Annals of Neurology, EarlyView.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua, Anthony T. Reder, Evanthia Bernitsas, Nancy L. Monson, Timothy Vartanian, Gregory F. Wu, Mansoor Saleh, Annette Okai, Ahmed Z. Obeidat, Dilraj Sokhi, Rikisha Parekh, Jinglan Pei, Christopher Harp, David Clayton, Ibraheem Abioye, Mitzi J. Williams, for the CHIMES Study Group   +16 more
wiley   +1 more source

Perivascular Spaces as Determinants of Amyloid, Tau, and Vascular Biomarker Progression

Annals of Neurology, EarlyView.
Objective Magnetic resonance imaging (MRI)‐visible enlarged perivascular spaces (PVS) are markers of cerebral small vessel disease (SVD) and aging, processes implicated in both neurodegenerative and cerebrovascular pathologies. However, longitudinal positron emission tomography (PET) studies examining PVS as a mechanism underlying Alzheimer's disease ...
Audrey Low, Jeffrey L. Gunter, Mingzhao Hu, Sheelakumari Raghavan, Scott A. Przybelski, Christopher G. Schwarz, Kejal Kantarci, Val J. Lowe, Ronald C. Petersen, Jonathan Graff‐Radford, Clifford R. Jack Jr, Prashanthi Vemuri   +11 more
wiley   +1 more source

Demographic and Clinical Characteristics of Epilepsy Patients in Ardabil City, Iran, 2022 [PDF]

Physical Treatments
Purpose: Geographical location, demography, and ethnicity of a person can all affect epilepsy, a neurological condition. The prevalence and clinical features of epilepsy change with population dynamics and lifestyle, which affect healthcare management ...
Ghasem Fattahzadeh, Firouz Amani, Fatemeh Jangi, Rezvan Parkalian   +3 more
doaj  

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk

Annals of Neurology, EarlyView.
Objective ATP‐binding cassette transporter A1 (ABCA1) has been associated with Alzheimer's disease (AD), but the mechanisms by which it impacts disease risk are unknown. ABCA1 is known to bind apolipoprotein E (ApoE) and catalyze apolipoprotein lipidation.
Andrés Peña‐Tauber, Ricardo Hernández Arriaza, Dylan Reil, Manon Muntaner, Junyoung Park, Benjamin Grenier‐Boley, Marc Hulsman, Philippe Amouyel, Céline Bellenguez, Camille Charbonnier, Jean‐François Deleuze, Orio Dols‐Icardo, John Hardy, Henne Holstege, Gaël Nicolas, Simon Mead, Michael Wagner, Alfredo Ramirez, Rebecca Sims, John van Swieten, Julie Willams, Jean‐Charles Lambert, Chaitan Khosla, Yann Le Guen, Michael D Greicius   +24 more
wiley   +1 more source

Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X‐Linked Dystonia Parkinsonism

Annals of Neurology, EarlyView.
Objective Initially described in 1976, X‐linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature of XDP is still unclear ...
Adelie Y.S. Tan, Nakhon. S.S.S. Thai, Christine J. Arasaratnam, Seung A. Han, Ellen B. Penney, Geraldine Acuña‐Sunshine, Cid Czarina E. Diesta, Mark C. Ang, Edwin Muñoz, Cara Fernandez‐Cerado, Victor Cleofas, G. Paul Legarda, Salvie Velasco, Michelle A. Sy, Clinton P. Turner, Mike Dragunow, Maurice A. Curtis, Ann. M. Graybiel, Richard L.M. Faull, Malvindar K. Singh‐Bains   +19 more
wiley   +1 more source

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Emilio Minerva, Vita Passidomo, Rosario Vasta, Gabriele Mora, Fabrizio D’Ovidio, Antonio Canosa, Andrea Calvo, Adriano Chiò   +14 more
wiley   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source