Mutation, missense - Open Access .click

Results 241 to 250 of about 1,703,111 (346)

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes +6 more
wiley +1 more source

Hemoglobin San Diego: A Case Report and Review of the Literature. [PDF]

Am J Case Rep
Repp ML, McMahon B.
europepmc +1 more source

First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function

Human Mutation, 2010
E. Piters +12 more
semanticscholar +1 more source

Novel homozygous SYNE1 missense variant in late onset autosomal recessive cerebellar ataxia 1: a case report. [PDF]

Ther Adv Neurol Disord
Selmaj I, Himmelreich N, Selmaj K.
europepmc +1 more source

A missense mutation in the bovine NPBWR2 gene introgressed from Bos javanicus into Chinese indicine cattle. [PDF]

Anim Biotechnol
Tian Y +8 more
europepmc +1 more source

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Journal of musculoskeletal & neuronal interactions, 2007
S. Ichikawa +9 more
semanticscholar +1 more source

Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology

Movement Disorders, EarlyView.
Abstract Background Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...
Kathryn Step +680 more
wiley +1 more source

Prioritizing missense mutations via a deep learning phosphorylation prediction model. [PDF]

Hum Genomics
Xu Y, Zhou Y, Li K, Zhou S, Yang H, Zhou D. +5 more
europepmc +1 more source

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Human Molecular Genetics, 2005
A. Benet-Pagès +3 more
semanticscholar +1 more source

Increased Serum Neurofilament Light Chain Levels in Parkinson's Disease Patients Carrying the p.A53T SNCA Mutation: Data from the Parkinson's Progression Markers Initiative Study

Movement Disorders, EarlyView.
Abstract Background Serum neurofilament light chain (NfL) levels, a marker of axonal damage, are generally elevated in neurodegenerative conditions, but results in idiopathic Parkinson's disease (iPD) have been inconsistent. The p.A53T SNCA mutation usually leads to a severe form of PD.
Nikolaos Papagiannakis +213 more
wiley +1 more source

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