Results 81 to 90 of about 451,209 (293)
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
, 2022 XML & TEI views of MS-HRC-SB-5-4 from Krapp's Last Tape / La Dernière ...
Samuel Beckett (12358795)
core +1 more source
European Physical Journal C: Particles and Fields, 2020 The process $$e^+e^-\rightarrow K^+K^-\pi ^0$$ e + e - → K + K - π 0 is studied with the SND detector at the VEPP-2000 $$e^+e^-$$ e + e - collider. Basing on data with an integrated luminosity of 26.4 $$\hbox {pb}^{-1}$$ pb - 1 we measure the $$e^+e ...
M. N. Achasov +40 more
doaj +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
, 2022 Page views of MS-HRC-SB-5-10 from L'Innommable / The ...
Samuel Beckett (12358795)
core +1 more source
Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper +25 more
wiley +1 more source
, 2022 XML & TEI views of MS-HRC-SB-5-10 from L'Innommable / The ...
Samuel Beckett (12358795)
core +1 more source