Results 191 to 200 of about 551,720 (296)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

The burden of intracranial atherosclerosis on cerebral small vessel disease: A community cohort study

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah, Heng Du, Wenjie Yang, Huixing Zeng, Jason Tsz Lok Chan, Michael Lung Cheung Lo, Xiangyan Chen   +6 more
wiley   +1 more source

An integrated transcriptomic cell atlas of human neural organoids. [PDF]

Nature
He Z, Dony L, Fleck JS, Szałata A, Li KX, Slišković I, Lin HC, Santel M, Atamian A, Quadrato G, Sun J, Pașca SP, Human Cell Atlas Organoid Biological Network, Camp JG, Theis FJ, Treutlein B.   +15 more
europepmc   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

New caddisfly records (Insecta, Trichoptera) for Montenegro and Ecoregion 5, Dinaric Western Balkans: distributional and ecological insights. [PDF]

Biodivers Data J
Bozdoğan H, Bilalli A, Ibrahimi H.
europepmc   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

A randomized open label pilot study evaluating the efficacy of two dosing regimens of rifamycin SV MMX in the treatment of small intestinal bacterial overgrowth. [PDF]

BMC Gastroenterol
Connor BA, Rogova M, Garcia J, Gardner M, Waraich C, Averill V.   +5 more
europepmc   +1 more source

Dual‐Phase C‐11 PiB PET Images for Detecting Tau Pathology in Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cerebral amyloid angiopathy (CAA) is a major cause of lobar intracerebral hemorrhage and cognitive dysfunction in the elderly, and frequently coexists with Alzheimer's disease and tau pathology. Dual‐phase 11C‐PiB PET detects amyloid deposition and cerebral perfusion changes and may have diagnostic value for identifying tau in CAA ...
Meng‐Ting Chiang, Chia‐Ju Liu, Bo‐Ching Lee, Ruoh‐Fang Yen, Hsin‐Hsi Tsai   +4 more
wiley   +1 more source

Music Interventions in Hyperacute and Acute Stroke Patients: A Randomized Controlled Pilot Feasibility Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Music interventions have been shown to have beneficial effects on hemodynamic parameters, pain, and anxiety in various medical settings. However, music interventions in the setting of acute stroke have not been studied. The objective of this trial was to perform a pilot feasibility study of music interventions in the setting of acute
Jeffrey J. Fletcher, Allison Edberg, Ronald Grifka, Joan Westendorp, Augusto Elias, Jacquie Knott, Elizabeth Martin, Fazeel Siddiqui   +7 more
wiley   +1 more source

Polypharmacy in Pediatric Palliative Care: Exploring Discrepancies Between Physicians and Pharmacists. [PDF]

Children (Basel)
Mengato D, Zanin A, Baratiri F, Pivato L, Camuffo L, Benini F, Venturini F.   +6 more
europepmc   +1 more source