Results 191 to 200 of about 8,739 (269)

Electroencephalography‐Based Clustering Reveals Robust Neurophysiological Subtypes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is clinically heterogeneous, with substantial variability in motor and cognitive features. Conventional clinical scales provide limited insight into underlying neural mechanisms and show poor longitudinal stability.
Daniel Vered, Zoya Katzir, Idan Daniel Grosbard, Avner Thaler, Inbal Maidan   +4 more
wiley   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Genetic diversity and runs of homozygosity in Rendena Cattle

, 2023
Somenzi, E., Partel, E., Barbato, M., Chero Osorio, A. M., Colli, L., Franceschi, N., Pilla, F., Komjanc, M., Achilli, A., Hauffe, H. C., Ajmone Marsan, P.   +10 more
openaire   +2 more sources

Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank. [PDF]

J Hum Genet
Minn AKK, Matsuzaki M, Narita A, Funayama T, Kotsar Y, Makino S, Takayama J, Tohoku Medical Megabank Project Study Group, Kuriyama S, Tamiya G.   +9 more
europepmc   +1 more source

High‐Fat Diet Exacerbates Neuropathology in a Transgenic Mouse Model of Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Multiple system atrophy (MSA) is a rare and devastating neurodegenerative disorder. Accumulating clinical and preclinical evidence suggests that diabetes and insulin resistance may adversely influence MSA pathophysiology. Objective We investigated the potential association between diabetes, impaired glucose homeostasis, and MSA ...
Marie‐Laure Arotcarena, Anna Delamarre, Miguel Lopez‐Cuina, Hugo Martin, Elio Balpe, Xavier Fioramonti, Erwan Bezard, Wassilios G. Meissner   +7 more
wiley   +1 more source

Genomic scans for selection and runs of homozygosity in southern Italian turkey populations. [PDF]

Poult Sci
Saleh MS, Landi V, Derks MFL, Centoducati G, Groenen MAM, De Palo P, Ciani E, Pugliese N, Circella E, Camarda A.   +9 more
europepmc   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Synteny Enabled Upgrade of the Galapagos Giant Tortoise Genome Improves Inferences of Runs of Homozygosity. [PDF]

Ecol Evol
Jensen EL, Marchisio C, Ochoa A, Gray R, Parra V, Miller JM, Çilingir FG, Caccone A.   +7 more
europepmc   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Runs of homozygosity and selection signals analysis reveals domestication traits and divergence in local domestic duck breeds. [PDF]

Poult Sci
Ren P, Jing Y, Yang L, Khan MZ, Zhang M, Liu X, Ma W, Ding Z, Li X, Qi C, Liu Z, Zhang S, Zhu Z, Zheng N, Zhu M.   +14 more
europepmc   +1 more source