Results 301 to 310 of about 13,458,883 (414)

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

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Forest Guardians: The Role of Dense Forests and Water Networks in Supporting Lowland Tapir (<i>Tapirus terrestris</i>) Populations in the Orinoquia Region of Colombia. [PDF]

Ecol Evol
Alviz Á, Pérez-Albarracín KE, Salazar-Bravo J, Stevens RD.   +3 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

Correction for Slaughter et al., Community notes reduce engagement with and diffusion of false information online. [PDF]

Proc Natl Acad Sci U S A
europepmc   +1 more source

Association of genetic variation with age at diagnosis in type 1 diabetes. [PDF]

BMJ Open Diabetes Res Care
Vollenbrock CE, Roshandel D, Lee KE, Klein BE, Mul D, van der Klauw MM, Tack CJ, Rewers M, Snell-Bergeon JK, Costacou T, Miller RG, Caramori ML, Mauer M, Aanstoot HJ, Wolffenbuttel BHR, Paterson AD, DCCT/EDIC Research Group, DCCT/EDIC Research Group .   +17 more
europepmc   +1 more source

Recent past and future climate change over the TRIQUETRA cultural heritage sites and related damage risk

Aristeidis K. Georgoulias, Dimitris Akritidis, Efstathia Tringa, H. Feidas, Prodromos Zanis   +4 more
openalex   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons, Todd Levine, Charles H. Adler, Bailey Bellaire, Ningshan Wang, Pinky Agarwal, Georgina M. Aldridge, Alexandru Barboi, Daniel Claassen, Virgilio G. H. Evidente, Douglas Galasko, Alejandra Gonzalez‐Duarte, Ramon Gil, Mark Gudesblatt, Stuart H. Isaacson, Horacio Kaufmann, Pravin Khemani, Rajeev Kumar, Guillaume Lamotte, Andy J. Liu, Nikolaus R. McFarland, Mitchell G. Miglis, Adam Reynolds, Gregory A. Sahagian, Marie‐Helene Saint‐Hilaire, Julie B. Schwartzbard, Wolfgang Singer, Michael J. Soileau, Steven Vernino, Patricio Millar Vernetti, Oleg Yerstein, Roy Freeman   +31 more
wiley   +1 more source

Neuropsychiatric Symptoms Mimicking Dementia in a Patient Treated With Imatinib

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Tyrosine kinase inhibitors are the cornerstone of chronic myeloid leukemia treatment. Newer agents have more potency and a broader spectrum of action, but also a higher potential for neuropsychiatric side effects. We present a case of a patient on imatinib who developed progressive cognitive, mood, and behavioral alterations.
Ashley Jones, Samuele Bonomi, Keith E. Stockerl‐Goldstein, Randall J. Bateman   +3 more
wiley   +1 more source

Animals in child sleeping spaces and unimproved sanitation associated with diarrhea among young children in the Democratic Republic of the Congo: WASHmobile PICHA7 prospective cohort study. [PDF]

Trop Med Health
Bisimwa JR, Endres K, Sanvura P, Williams C, Thomas E, Perin J, Bisimwa L, Mwishingo A, Cikomola C, Bengehya J, Kulondwa JC, Mwene-Batu P, Maheshe G, George CM.   +13 more
europepmc   +1 more source