Results 1 to 10 of about 1,639,589 (408)

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

Nature Network Boston, 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   +4 more sources

Zebrafish Models of Autosomal Dominant Ataxias [PDF]

Cells, 2021
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +5 more sources

Autosomal dominant intellectual disability [PDF]

Medizinische Genetik, 2018
Intellectual disability (ID) is a heterogeneous entity defined as a substantial impairment of cognitive and adaptive function with an onset in early childhood and an IQ measure of less than 70. During the last few years, the next generation technologies,
D. Wieczorek
semanticscholar   +4 more sources

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy [PDF]

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +2 more sources

Renal ammonia in autosomal dominant polycystic kidney disease [PDF]

, 1994
Renal ammonia in autosomal dominant polycystic kidney disease. Recent studies have suggested that defective medullary trapping of ammonia underlies the acidosis associated with renal failure and sets in motion maladaptive compensatory mechanisms that ...
Keith, Douglas S., Kon, Sui P., Offord, Kenneth P., Torres, Vicente E., Wilson, David M.   +4 more
core   +2 more sources

Autosomal dominant microcephaly

The Journal of Pediatrics, 1982
Livia N. Rossi, M. Battilana
openalex   +3 more sources

A Rare Case of Ectrodactyly Ectodermal Dysplasia and Cleft Lip Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2022
A 23-year-old female patient visited the Oral Medicine and Radiology Department with the complaint of irregularly placed upper and lower front teeth since childhood.
Kshma Rao, Roopashri R Kashyap, Raghavendra Kini, Prasanna Kumar Rao, Gowri P Bhandarkar, Devika Shetty   +5 more
doaj   +1 more source

Autosomal dominant polycythemia [PDF]

Blood, 1985
Abstract Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia.
Josef T. Prchal, Josef T. Prchal, WM Crist, WM Crist, Jaroslav F. Prchal, Jaroslav F. Prchal, G Perrine, G Perrine, E Goldwasser, E Goldwasser   +9 more
openaire   +3 more sources

Robinow Syndrome: A Rare Diagnosis [PDF]

Journal of Clinical and Diagnostic Research, 2015
Robinow syndrome is a rare entity characterized by short stature and abnormalities of the head, face and external genitalia. It is otherwise called ‘fetal face syndrome’ due to its resemblance with fetal face.
Shubhankar Mishra, Sunil Kumar Agarwalla, Swayanprava Pradhan   +2 more
doaj   +1 more source

Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau

Science, 2020
Two ways to get tangled? Neurodegeneration in Alzheimer's disease dementia is associated with neurofibrillary tangles composed of aggregated tau protein. Darwich et al.
Nabil F. Darwich, Jessica M. Phan, Boram Kim, Eunran Suh, J. Papatriantafyllou, Lakshmi Changolkar, A. Nguyen, Caroline M. O’Rourke, Zhuohao He, S. Porta, Garrett S. Gibbons, Kelvin C. Luk, S. Papageorgiou, M. Grossman, L. Massimo, D. Irwin, C. Mcmillan, I. Nasrallah, C. Toro, G. Aguirre, V. V. Van Deerlin, Eddie B. Lee   +21 more
semanticscholar   +1 more source