Results 61 to 70 of about 1,741,566 (288)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome [PDF]

, 2017
Asthma and COPD often have symptoms that overlap.
Babich-Speck, Kimberly A
core  

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

The oral mucosal and salivary microbial community of Behçet's syndrome and recurrent aphthous stomatitis. [PDF]

, 2015
This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is ...
Bergmeier, LA, Noha Seoudi, Bruce Paster, Farida Fortune, Paster, B, Francis Drobniewski, Lesley A. Bergmeier, Drobniewski, F, Fortune, F, Seoudi, N   +9 more
core   +1 more source

SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome

Biomarker Research, 2017
Myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndrome has been described since the 2001 WHO classification as disorders that have both proliferative and dysplastic changes simultaneously.
Katherine Linder, Chaitanya Iragavarapu, Delong Liu   +2 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice [PDF]

, 2011
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly.
Jackson, Ian J., Peter Branney, Rainger, Joe, Bardakjian, Tanya M, Sokhi, K., Pallotta, Rosanna, Koenig Rainer, Malcolm Fisher, McKie Lisa, Anita Wischmeijer, Fisher, M., Sérgio B. Sousa, Kishan Sokhi, Brunner, Han G, Mégarbané Andre, Fisher, Malcolm, Gillessen-Kaesbach, G., Sousa, Sérgio B., Bokhoven, J.H.L.M. van, Hennekam, Raoul C., Al-Gazali, L., Wischmeijer, Anita, FitzPatrick David R., Semerci, C. Nur, Andrea Superti Furga, Philippe Gautier, Ramos, Lina, Hennekam, Raoul, Bardakjian, T.M., Perry Paul, Semerci, C Nur, Pallotta Rosanna, van Beusekom Ellen, Ramos, L., Khan, Ayesha, Wieczorek, D, Lisa McKie, Ian J Jackson, Gillessen-Kaesbach Gabriele, Bicknell Louise, Saemah Zafar, Raoul Hennekam, Ferda Ozkinay, Elcioglu, Nursel, Fitzpatrick, David R, Adele S Schneider, Gillessen-Kaesbach, Gabriele Gertrud, Ramos Lina, Hennekam Raoul, Rosanna Pallotta, Lihadh Al-Gazali, Dagmar Wieczorek, Megarbane, A., Zafar, Saemah, van Bokhoven, H., Paul Perry, Rainer Koenig, Perry, P., Schneider, Adele S., Ian J. Jackson, Gautier Philippe, Semerci C. Nur, Gautier, P., C. Nur Semerci, Koenig, Rainer, Morrison, Harris, Gautier, Philippe, Bicknell, L., Al-Gazali Lihadh, Elcioglu Nursel, Saponari Anita, Furga, A.S., McKie, L., Han G Brunner, Ellen van Beusekom, Han G. Brunner, Sokhi Kishan, Zafar Saemah, Semerci, C.N., David Sexton, van Bokhoven, Hans, Gabriele Gillessen-Kaesbach, Sousa Sérgio B., Garavelli Livia, Ramsay, Jacqueline K, Lina Ramos, Schneider, Adele S, Ramsay Jacqueline K., Jackson Ian J., Rainger, J., Anita Saponari, FitzPatrick, D.R., Al-Gazali, Lihadh, Bicknell, Louise, Wieczorek, Dagmar, Elcioglu, N., Ayesha Khan, David R Fitzpatrick, Garavelli, Livia, Wieczorek, D., Jackson, Ian J, Sokhi, Kishan, Sexton, D., Jacqueline K Ramsay, Schneider, A.S., Harris Morrison, Adele S. Schneider, Hans van Bokhoven, Sexton David, Rainger Joe, Gillessen-Kaesbach, Gabriele, Beusekom, E. van, Furga, Andrea Superti, Brunner, Han G., Mégarbané, Andre, Wischmeijer, A., Wischmeijer Anita, Brunner, H.G., Tanya M Bardakjian, Pallotta, R., Hennekam, R., Branney Peter, Ozkinay, Ferda, Branney, Peter, Andre Mégarbané, Fisher Malcolm, Brunner Han G., FitzPatrick, David R., Morrison Harris, Bardakjian, Tanya M., Ozkinay, F., Khan, A., Sousa, S.B., Furga Andrea Superti, Jackson, I.J., Bokhoven, Hans van, David R. FitzPatrick, Özkınay, Ferda, Ozkinay Ferda, van Bokhoven Hans, Saponari, Anita, Jacqueline K. Ramsay, Garavelli, L., Tanya M. Bardakjian, Perry, Paul, Sexton, David, Nursel Elcioglu, Zafar, S., Bardakjian Tanya M., Khan Ayesha, Saponari, A., Branney, P., Sousa, Sérgio B, Sérgio B Sousa, van Beusekom, E., Louise Bicknell, Ramsay, Jacqueline K., Schneider Adele S., van Beusekom, Ellen, C Nur Semerci, Ramsay, J.K., Livia Garavelli, Wieczorek Dagmar, Joe Rainger, Beusekom, Ellen van, McKie, Lisa, Koenig, R., Morrison, H.   +167 more
core   +3 more sources

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

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height [PDF]

, 2011
The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes.
Tatton-Brown, Katrina, Hanks, Sandra, Temple, I. Karen, Ruark, Elise, et al., Cole, Trevor, Douglas, Jenny, Loveday, C, Patton, Michael, Ruark, E, Murray, A, Ramsay, Emma, Seal, Sheila, Ramsay, E, Taylor, C, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Duarte, SDELV, Seal, S, Douglas, J, Raith, W, Clericuzio, Carol, Magee, A, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Rankin, Julia, Snape, Katie, Zachariou, Anna, Temple, Karen I, Murray, Anne, Splitt, M, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, Strenger, Volker, Perdeaux, Elizabeth R, McConnell, Vivienne, Banka, Siddharth, Clericuzio, C, Wheeler, Patricia, McConnell, V, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Rankin, J   +57 more
core   +2 more sources

The Risk Factors and Predictors of Chronic Obstructive Pulmonary Disease in Patients With Obstructive Sleep Apnea–Hypopnea Syndrome at Plateau

The Clinical Respiratory Journal
Background OSAHS patients with COPD (i.e., overlap syndrome) have a significantly worse prognosis than those with OSAHS alone, and the role of plateau hypoxia in the occurrence of the disease is still unclear.
Yumei Geng, Yu Hu, Bin Li, Zhuoma Dawa, Fang Zhang   +4 more
doaj   +1 more source