Results 231 to 240 of about 977,784 (305)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Direct construction of sparse suffix arrays with Libsais. [PDF]

BMC Bioinformatics
Van de Vyver S, Moortele TV, Dawyndt P, Mesuere B, Verschaffelt P.   +4 more
europepmc   +1 more source

Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge, Roberto S. Hernandez, Nora C. Hernandez, Phyllis L. Faust, Elan D. Louis   +4 more
wiley   +1 more source

Can medical consortiums bridge the gap in health inequity in China? A propensity score matching analysis. [PDF]

Health Policy Plan
Feng C, Chen Y, Wang W, Chen S.
europepmc   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Comparative effectiveness of take-home dosing schedules for opioid agonist treatment in British Columbia, Canada: a target trial emulation protocol using a population-based observational study. [PDF]

BMJ Open
Kurz M, Guerra-Alejos BC, Hossain MB, Min JE, Yan R, Bruneau J, Catherine NLA, Greenland S, Gustafson P, Hedden L, Karim E, McCandless L, Nolan S, Platt RW, Bach P, Seaman S, Siebert U, Socías ME, Nosyk B.   +18 more
europepmc   +1 more source

Annual 12‐Week Dosing Gap of Natalizumab: Clinical Efficacy, Blood Biomarkers, and CSF Cell Composition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich, Tilman Schneider‐Hohendorf, Eric Baetscher, Evan L. Riddle, Marie Deffner, Emily Katsnelson, Janine Ferrant‐Orgettas, Julie Czerkowicz, John Anderson, Susan E. Goelz, Nicholas Schwab   +10 more
wiley   +1 more source

Impact of genetically modified Brinjal (Bt brinjal) on farmers' income and production in Pabna District, Bangladesh. [PDF]

GM Crops Food
Hossain MA, Hossain KK, Joshi NP.
europepmc   +1 more source

Bidirectional search in a string with wavelet trees and bidirectional matching statistics

, 2012
Thomas Schnattinger, Enno Ohlebusch, Simon Gog   +2 more
openalex   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source