Autosomal dominant - Open Access .click

Results 221 to 230 of about 207,744 (307)

Cervical Artery Dissection in Autosomal Dominant Polycystic Kidney Disease. [PDF]

Medicina (Kaunas)
Liu A, Xeros H, Wahood W, Keser Z, Khan M. +4 more
europepmc +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade +8 more
wiley +1 more source

Web-based LAS-FNAME and blood biomarkers in autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement (Amst)
Gonzalez Corona C +16 more
europepmc +1 more source

The Importance of Neuropathology in a Complex Movement Disorder with Primary Familial Brain Calcification

Movement Disorders, EarlyView.
Ida Gugler +3 more
wiley +1 more source

OCT and Autofluorescence Phenotypic Features in Autosomal Dominant <i>RHO</i>-Associated Retinitis Pigmentosa Variants. [PDF]

Vision (Basel)
Karakosta C +4 more
europepmc +1 more source

Pathogenic Variants in the PRKRA Gene Can Result in a Rapid‐Onset Dystonia‐Parkinsonism‐like Phenotype

Movement Disorders, EarlyView.
Maeve Bradley +7 more
wiley +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

Perioperative Outcomes of Nephrectomy for Autosomal Dominant Polycystic Kidney Disease. [PDF]

Urol Pract
Bacchus MW, Wong V, Sood A, Singer EA, Dason S. +4 more
europepmc +1 more source

Lack of Cerebrospinal Fluid α‐Synuclein Seeding in VPS35 D620N‐ and LRRK2 Y1699C‐Linked Parkinson's Disease

Movement Disorders, EarlyView.
Letizia Santinelli +18 more
wiley +1 more source

Quantitative Susceptibility Mapping of Kidney Stones: An Ex Vivo MRI Phantom Study

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To visualize and characterize the five most common kidney stone types based on their magnetic susceptibilities in MRI using QSM. Methods Three water‐based agar phantoms were constructed, containing a total of 53 ex vivo kidney stones of varying types and sizes.
Lion H. Mücke +8 more
wiley +1 more source

medicine
autosomal dominant polycystic kidney disease