Results 61 to 70 of about 198,180 (264)

Genetic predisposition to Alzheimer's disease [PDF]

Profese online, 2020
Alice Hálová, Laura Ambrozová, Petr Ambroz, Anna Zatloukalová, Ondřej Machaczka, Jana Janoutová, Vladimír Janout   +6 more
openaire   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Association between genetic predisposition and disease burden of stroke in China: a genetic epidemiological study. [PDF]

Lancet Reg Health West Pac, 2023
Huang Q, Lan X, Chen H, Li H, Sun Y, Ren C, Xing C, Bo X, Wang J, Jin X, Song L.   +10 more
europepmc   +1 more source

GENETIC FACTORS AND PREDISPOSITION TO DISEASE

This article reviews genetic factors that influence susceptibility to various diseases, including both hereditary and multifactorial disorders. The study relies on the analysis of existing data and the results of meta-analyses to substantiate the significance of genetic predisposition in disease pathogenesis.
Karimov Abduhalim Abdurozikovich, Hamidova Zebiniso Hikmatovna   +1 more
openaire   +2 more sources

GENETIC MARKERS OF PREDISPOSITION TO METABOLIC DISEASES

Vestnik APK Verhnevolzh`ia, 2023
В эпоху активного развития цифровых технологий в животноводстве всё большую актуальность стали приобретать современные методы молекулярной генетики, позволяющие диагностировать целый комплекс хозяйственно полезных признаков у животных. Вместе с тем, маркер-ориентированная селекция открывает возможности для прогнозирования предрасположенности к ...
openaire   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease.

PLoS ONE, 2009
Background and aimsMeningococcal disease remains one of the most important infectious causes of death in industrialized countries. The highly diverse clinical presentation and prognosis of Neisseria meningitidis infections are the result of complex host ...
Antonio Salas, Laura Fachal, Sonia Marcos-Alonso, Ana Vega, Federico Martinón-Torres, Grupo de investigación ESIGEM (Estudio Sobre la Influencia Genética en la Enfermedad Meningocócica)   +5 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

A tagging polymorphism in fat mass and obesity-associated (FTO) gene is associated with sepsis status in children

Romanian Journal of Internal Medicine
Sepsis is one of the most common causes of death in patients admitted to intensive care units (ICUs). The development of sepsis is significantly influenced by genetic predisposition.
Jabandziev Petr, Hubacek Jaroslav Alois, Michalek Jaroslav, Jouza Martin, Papez Jan, Pecl Jakub, Slaba Katerina, Slaby Ondrej, Urik Milan, Aulicka Stefania, Kunovsky Lumir, Michalek Jaroslav, Dominik Petr, Kratochvil Milan, Klucka Jozef, Stourac Petr   +15 more
doaj   +1 more source