Results 101 to 110 of about 768,160 (341)

FACIAL ATROPHY [PDF]

The Journal of Nervous and Mental Disease, 1907
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openaire   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Genitourinary Syndrome of Menopause among Postmenopausal Women in a Tertiary Care Centre: A Descriptive Cross-sectional Study

Journal of Nepal Medical Association, 2022
Introduction: Genitourinary syndrome of menopause incorporates vulvovaginal and lower urinary tract symptoms related to estrogen deficiency which affects more than half of postmenopausal women.
Neebha Ojha, Kesang Diki Bista, Sunita Bajracharya , Neeta Katuwal   +3 more
doaj  

Early adulthood onset of muscle weakness in facioscapulohumeral muscular dystrophy and physical therapy management: An unusual case report

Medicine Science, 2019
Facioscapulohumeral muscular dystrophy is an uncommon and rarely seen progressive myopathic disorder. It is usually seen during periods of rapid growth (4-5 years). Proximal and distal upper extremities characteristically show weakness and atrophy. Face,
Elisa Calisgan, Oznur Tunca Yilmaz, Deniz Tuncel, Tulin Duger   +3 more
doaj   +1 more source

Evaluation of local and global atrophy measurement techniques with simulated Alzheimer's disease data [PDF]

, 2007
The main goal of this work was to evaluate several well-known methods which provide global (BSI and SIENA) or local (Jacobian integration) estimates of atrophy in brain structures using Magnetic Resonance images.
Camara, O., Crum, W.R., Fox, N.C., Hill, D.L.G., Ridgway, G.R., Scahill, R.I., Schnabel, J.A.   +6 more
core  

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

NfL concentration in CSF is a quantitative marker of the rate of neurodegeneration in aging and Huntington's disease: a semi-mechanistic model-based analysis

Frontiers in Neuroscience
The concentrations of neurofilament light chain (NfL) in cerebrospinal fluid (CSF) and plasma have become key biomarkers of many neurodegenerative diseases, including Huntington's Disease (HD).
Matthias Machacek, Elena Garcia-Montoya, Peter McColgan, Patricia Sanwald-Ducray, Norman Alan Mazer, Norman Alan Mazer   +5 more
doaj   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]

, 2018
Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018).,, Bertolin, C., Cipolletta, S., Kleinbub, J. R., Marcato, S., Martinelli, I., Palmieri, Arianna, Pegoraro, E, Pick, E., Querin, G., Sorar\uf9, G.   +10 more
core   +1 more source

CENTRAL ATROPHY [PDF]

The Journal of Nervous and Mental Disease, 1917
n ...
openaire   +1 more source