Results 201 to 210 of about 15,343 (276)

Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios [PDF]

, 2018
Ali , Syed, Als, Thomas D., Andreas Sibbesen, Jonas, Belling, Kirstine, Besenbacher, Søren, Beusekom, Johan v., Bolund, Lars, Bork-Jensen, Jette, Brunak, Søren, Brunak, Søren, Børglum, Anders D., Cao, Hongzhi, Chang, Yuqi, Eiberg, Hans, Espeseth, Thomas, Flindt, Esben N., Friborg, Rune M., Gonzalez-Izarzugaza, Jose Maria, Grosjean, Marie, Grove, Jakob, Guo, Xiaosen, Gupta, Ramneek, Halager, Anders Egerup, Hansen, Torben, Huang, Shujia, Hultman, Christina M., Izarzugaza, Jose M. G., Jensen, Jacob Malte, Kristiansen, Karsten, Krogh, Anders, Le Hellard, Stephanie, Lescai, Francesco, Li, Ning, Li, Shengting, Liu, Siyang, Lund, Ole, Løngren, Peter, Mailund, Thomas, Maretty, Lasse, Matey-Hernandez, María Luisa, Matey-Hernandez, María Luisa, Mors, Ole, Pedersen, Christian N. S., Pedersen, Oluf, Petersen, Bent, Rao, Junhua, Schierup, Mikkel Heide, Sicheritz-Pontén, Thomas, Skov, Laurits, Sullivan, Patrick F., Sun, Jihua, Sørensen, Thorkild I. A., Theil Have, Christian, Villesen, Palle, Wang, Jun, Westergaard, David, Xu, Ruiqi, Xu, Xun, Yadav, Rachita, Ye, Chen, Ye, Weijian   +60 more
core   +1 more source

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Genome-wide landscape of genetic diversity, runs of homozygosity, and runs of heterozygosity in five Alpine and Mediterranean goat breeds. [PDF]

J Anim Sci Biotechnol
Pegolo S, Bisutti V, Mota LFM, Cecchinato A, Amalfitano N, Dettori ML, Pazzola M, Vacca GM, Bittante G.   +8 more
europepmc   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility

Movement Disorders, EarlyView.
Abstract Background GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2–3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.
Sitki Cem Parlar, Yoomin Lee, Ziv Gan‐Or   +2 more
wiley   +1 more source

Single nucleotide polymorphism-based analysis of linkage disequilibrium and runs of homozygosity patterns of indigenous sheep in the southern Taklamakan desert. [PDF]

BMC Genomics
Han ZP, Zhang LL, Li XP, Zhu LJ, Zhang XC, Zhou W, Liu S.   +6 more
europepmc   +1 more source

Uncovering the Complexity of Synucleinopathies: An Ongoing Tale Between Proteins and Lipids

Movement Disorders, EarlyView.
Abstract Neurodegenerative diseases are pathological states characterized by progressive alterations in brain homeostasis during aging. Synucleinopathies, including Parkinson's disease and dementia with Lewy bodies, are defined neuropathologically by the accumulation of inclusions known as Lewy bodies and Lewy neurites.
Manuel Flores‐León, Tiago F. Outeiro
wiley   +1 more source

Detectability of runs of homozygosity is influenced by analysis parameters and population-specific demographic history. [PDF]

PLoS Comput Biol
Silva GAA, Harder AM, Kirksey KB, Mathur S, Willoughby JR.   +4 more
europepmc   +1 more source

Accelerating Medicines Partnership® Parkinson's Disease Proteomics: A Comprehensive Resource for Advancing Parkinson's Disease Research

Movement Disorders, EarlyView.
Abstract Background Recent advances in proteomic profiling have enabled its use as a powerful approach in elucidating molecular mechanisms underlying Parkinson's disease, enabling the identification of disease‐associated protein alterations and candidate biomarkers for diagnosis, progression, and therapeutic response.
Victoria J. Dardov, Aparna Vasanthakumar, Ameya Kulkarni, Niveda Sundararaman, Rakhi Pandey, Preeti Bais, Jennifer E. Van, Maria Quinton, Barry Landin, David Vismer, Bradford Casey, Matt Bookman, Willy Nojopranoto, Erin Teeple, Can Kayatekin, Rajaraman Krishnan, Richard Hargreaves, Guhan Nagappan, S. Pablo Sardi, Sri Ramulu Pullagura, Christine Swanson‐Fischer, Accelerating Medicines Partnership Parkinson's Disease (AMP PD) Proteomics Working Group   +21 more
wiley   +1 more source

Examination of Runs of Homozygosity Distribution Patterns and Relevant Candidate Genes of Potential Economic Interest in Russian Goat Breeds Using Whole-Genome Sequencing. [PDF]

Genes (Basel)
Deniskova TE, Dotsev AV, Koshkina OA, Solovieva AD, Churbakova NA, Petrov SN, Frolov AN, Platonov SA, Abdelmanova AS, Vladimirov MA, Gladyr EA, Gusev IV, Lebedev SV, Griffin DK, Romanov MN, Zinovieva NA.   +15 more
europepmc   +1 more source

The Cerebellar Cognitive‐Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal‐Recessive Spastic Ataxia of Charlevoix‐Saguenay: A Large International Cross‐Sectional Study

Movement Disorders, EarlyView.
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Julie Fortin, Matthis Synofzik, Élyse‐Anne Pedneault‐Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté, Cynthia Gagnon, Andreas Traschütz   +11 more
wiley   +1 more source