Results 21 to 30 of about 308,350 (333)

Autosomal dominant Parkinson’s disease [PDF]

Journal of Neurology, 1998
Multiple factors have been hypothesized over the years to be contributory and or causative for Parkinson's disease (PD). Hereditary factors, although originally discounted, have recently emerged in the focus of PD research. The study of a large Italian family with PD using a genome scan approach led to the mapping of a PD susceptibility gene to the ...
Christina, Sundal, Shinsuke, Fujioka, Ryan J, Uitti, Zbigniew K, Wszolek   +3 more
openaire   +4 more sources

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. [PDF]

, 2019
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.
A Butler, A Lalazar, A Llado, Aaron P. Schultz, Ana Baena, Arabiye Artola, AS Fleisher, Claudia Marino, D Smedley, Daniel J. Norton, David Aguillon, David Leyton-Cifuentes, DC Aguirre-Acevedo, Dhanesh Amarnani, DM Walsh, DT Chien, E Hudry, EC Mormino, Edmarie Guzmán-Vélez, EH Corder, Enmanuelle Pardilla-Delgado, Eric M. Reiman, Francisco Lopera, Gyungah R. Jun, H Braak, H Braak, Henrik Zetterberg, J Logan, JA Becker, Ji Luo, JI Velez, Jianling Ji, JN Rauch, John B. Miller, Joseph F. Arboleda-Velasquez, Juliana Acosta-Uribe, Justin S. Sanchez, KA Johnson, Kahira L. Saez-Torres, Kaj Blennow, Keith A. Johnson, Kenneth S. Kosik, Kewei Chen, L Wang, L Zhong, Leo A. Kim, Lishuang Shen, M Futamura, M Gisslén, MA Lalli, Marcus Naymik, Margarita Giraldo, Matthew J. Huentelman, Matthew Lalli, Michael O’Hare, Moiz Bootwalla, MR Wardell, N Acosta-Baena, Natalia Chmielewska, O Preische, Pierre N. Tariot, Pradeep Thiyyagura, Rebecca A. Reiman, Reisa A. Sperling, RW Mahley, S Fisher, S Thordardottir, Santiago Delgado-Tirado, Silvia Rios-Romenets, T Hashimoto, T Hashimoto, T Hedden, TM Shoup, WD Knight, Xiaowu Gai, Y Yamauchi, Yakeel T. Quiroz, Yi Su, Yinghua Chen, YT Quiroz   +79 more
core   +3 more sources

Autosomal dominant polycystic kidney

Pan African Medical Journal, 2022
Polycystic kidney disease is a hereditary illness that causes cystic growth of the kidneys, resulting in increasing kidney enlargement and renal insufficiency, as well as a variety of extrarenal symptoms. The illness has autosomal dominant and recessive inheritance patterns, characterized by gradual but increasing enlargement of the kidneys, with renal
Rugaved Raghavendra Gudadhe, Gaurav Rajendra Sawarkar   +1 more
openaire   +3 more sources

CADASIL: A monogenic condition causing stroke and subcortical vascular dementia [PDF]

, 2002
Mutations in Notch3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited small vessel disease leading to subcortical strokes and vascular dementia. The phenotypic presentation
Dichgans, Martin
core   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiencyCoccidioidomycosis and autosomal dominant STAT1 deficiency [PDF]

Journal of Human Immunity
Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans.
Aidé Tamara Staines-Boone, Miyuki Tsumura, STAT1 Consortium, Jacinta Bustamante, Satoshi Okada, Lizbeth Blancas-Galicia   +5 more
doaj   +1 more source

Cowden syndrome - Diagnostic skin signs [PDF]

, 2001
Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C., Hildenbrand, C., Lautenschlager, Stephan   +2 more
core   +1 more source

Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)

Pediatric Neurology Briefs, 2008
Data from 24 previously published ADPEAF families with mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) were analyzed, in a study at Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

HTRA1-related autosomal dominant cerebral small vessel disease

Chinese Medical Journal, 2021
. Background. Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL ...
Jing-Yi Liu, Yi-Cheng Zhu, Li-Xin Zhou, Yan-Ping Wei, Chen-Hui Mao, Li-Ying Cui, Bin Peng, Ming Yao, Xin Chen   +8 more
doaj   +1 more source

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source