Results 261 to 270 of about 1,526,772 (381)

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

Large-scale structure-informed multiple sequence alignment of proteins with SIMSApiper. [PDF]

Bioinformatics
Crauwels C, Heidig SL, Díaz A, Vranken WF.   +3 more
europepmc   +1 more source

Parametric multiple sequence alignment and phylogeny construction

, 2004
David Fernández‐Baca, Timo Seppäläinen, Giora Slutzki   +2 more
openalex   +1 more source

An algorithm for progressive multiple alignment of sequences with insertions [PDF]

, 2005
Ari Löytynoja, Nick Goldman
openalex   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source

One step forward towards deep-learning protein complex structure prediction by precise multiple sequence alignment construction. [PDF]

Clin Transl Med
Zheng W, Wuyun Q, Zhang Y.
europepmc   +1 more source

Computing the P-value of the information content from an alignment of multiple sequences [PDF]

, 2005
Niranjan Nagarajan, Neil Jones, Uri Keich   +2 more
openalex   +1 more source

Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi, Carla Franch‐Marti, Iñigo Ruiz‐Barrio, Frederic Sampedro, Jesus Perez‐Perez, Jordi A. Matias‐Guiu, Fernando Cuetos, Gonzalo Olmedo‐Saura, Laura Perez‐Carasol, Andrea Horta‐Barba, Ignacio Aracil‐Bolaños, Javier Pagonabarraga, Jaime Kulisevsky, Saul Martinez‐Horta   +13 more
wiley   +1 more source

Please Mind the Gap: Indel-Aware Parsimony for Fast and Accurate Ancestral Sequence Reconstruction and Multiple Sequence Alignment Including Long Indels. [PDF]

Mol Biol Evol
Iglhaut C, Pečerska J, Gil M, Anisimova M.   +3 more
europepmc   +1 more source

Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions. [PDF]

PLoS One, 2020
Karabachev AD, Martini DJ, Hermel DJ, Solcz D, Richardson ME, Pesaran T, Sarkar IN, Greenblatt MS.   +7 more
europepmc   +1 more source