Results 71 to 80 of about 1,639,589 (408)

Educational Case: Autosomal Dominant Polycystic Kidney Disease

Academic Pathology, 2020
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ryan L. Frazier BS, Alison R. Huppmann MD   +1 more
doaj   +1 more source

Prevalence of autosomal dominant polycystic kidney disease in the European Union

Nephrology, Dialysis and Transplantation, 2016
Background Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end-stage renal disease, but estimates of its prevalence vary by >10-fold.
C. Willey, J. Blais, A. Hall, H. Krasa, A. J. Makin, F. Czerwiec   +5 more
semanticscholar   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki, Masanori Kurihara, Kenji Ishibashi, Aya Midori Tokumaru, Kenji Ishii, Atsushi Iwata   +5 more
wiley   +1 more source

Autosomal Dominant Epilepsy Syndrome Linked to 2p11

Pediatric Neurology Briefs, 2002
A newly recognized autosomal dominant epilepsy syndrome with linkage to chromosome 2p11.1-q12.2 is described in an Italian pedigree of 8 patients reported from the Neurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for ...
J Gordon Millichap
doaj   +1 more source

Spectral Analysis of Guanine and Cytosine Fluctuations of Mouse Genomic DNA [PDF]

Fluctuation and Noise Letters, 4(3):L453-L464 (2004), 2004
We study global fluctuations of the guanine and cytosine base content (GC%) in mouse genomic DNA using spectral analyses. Power spectra S(f) of GC% fluctuations in all nineteen autosomal and two sex chromosomes are observed to have the universal functional form S(f) \sim 1/f^alpha (alpha \approx 1) over several orders of magnitude in the frequency ...
arxiv   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
wiley   +1 more source

Mitochondrial Abnormality Facilitates Cyst Formation in Autosomal Dominant Polycystic Kidney Disease

Molecular and Cellular Biology, 2017
Autosomal dominant polycystic kidney disease (ADPKD) constitutes the most inherited kidney disease. Mutations in the PKD1 and PKD2 genes, encoding the polycystin 1 and polycystin 2 Ca2+ ion channels, respectively, result in tubular epithelial cell ...
Y. Ishimoto, R. Inagi, D. Yoshihara, M. Kugita, S. Nagao, A. Shimizu, Norihiko Takeda, Masaki Wake, K. Honda, Jing Zhou, M. Nangaku   +10 more
semanticscholar   +1 more source

Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cerebral small vessel disease in adults. This study investigates the occurrence, risk factors, and prognosis of acute cerebral microinfarcts (ACMIs) in patients with CADASIL.
Xuejiao Men, Hui Li, Zhuoxin Guo, Bin Qin, Hengfang Ruan, Ruipeng Cai, Bingjun Zhang, Aimin Wu, Lei Wei, Yongqiang Dai, Haiyan Li, Zhengqi Lu   +11 more
wiley   +1 more source

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination [PDF]

, 2017
Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy.
Bock, Thomas, Kuner, Rohini, Meijer, Dies, Miehe, Michaela, Niemann, Axel, Oertli, Carole I., Sidiropoulos, Páris N. M., Suter, Ueli, Tinelli, Elisa, Wollscheid, Bernd   +9 more
core  

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source