Results 111 to 120 of about 2,713,395 (314)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Cohort profile: the Shanghai Birth Cohort [PDF]

International Journal of Epidemiology, 2019
Jun Zhang, Ying Tian, Weiye Wang, Fengxiu Ouyang, Jian Xu, Xiaodan Yu, Zhongcheng Luo, Fan Jiang, Hong Huang, Xiaoming Shen, Kun Sun, Weiping Xu, Lin Zhang, Yin Huang, Jinsong Zhang, Chonghuai Yan, Lisong Shen, Yixiao Bao, Weiwei Chen, Huijuan Zhang, Chuanliang Tong, Yiwen Zhang, Guangjun Yu, Jinjin Chen, Yu Zhang, Xiaotian Li, Haidong Cheng, Qinying Zhang, Tao Duan, Jing Hua, Hua Peng   +30 more
openaire   +2 more sources

Cohort fertility patterns and breast cancer mortality among U.S. women, 1948-2003 [PDF]

Epidemiological research has shown that women who have early and numerous births have reduced risks of being diagnosed with breast cancer. We use U.S.
Patrick M. Krueger, Samuel Preston
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Birth weight, hypertension and "white coat" hypertension: size at birth in relation to office and 24-h ambulatory blood pressure.

, 2005
We investigated the association of size at birth with hypertensive status defined by office blood pressure (BP) and 24-h ambulatory BP monitoring in a historical cohort study of 736 men born 1920-1924 and examined at age 70 years.
Leon, DA, Koupil, I, Byberg, L
core   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

A descriptive analysis of the drinking behaviour of the 1958 cohort at age 33 and the 1970 cohort at age 34 [PDF]

, 2007
This paper provides a comparison of the drinking patterns of members of the 1958 British Birth Cohort at age 33 in 1991 and members of the 1970 British Birth Cohort at age 34 in 2004.
Dodgeon, Brian, Elliott, Jane, Elliott, J, Elliott, Julian, Dodgeon, B   +4 more
core  

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Select Birth Cohorts [PDF]

Worldwide demographic changes and their implications for governments, corporations, and individuals have been in the focus of public interest for quite some time due to the fiscal risk related to adequate retirement benefits.
MacMinn, Richard, Weber, Frederik
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