Results 131 to 140 of about 28,399 (219)
Not Missing the Notch: Detection Challenges of Juxtamembrane NOTCH1 Variant Detection in T‐Cell Acute Lymphoblastic Leukemia
Journal of Clinical Laboratory Analysis, EarlyView.ABSTRACT Background
Activating mutations in NOTCH1 are frequent in T‐cell acute lymphoblastic leukemia (T‐ALL) and, in the absence of alterations in RAS or PTEN, are associated with favorable prognosis. Besides classical heterodimerization and PEST domain mutations, juxtamembrane internal tandem duplications (JME‐ITDs) represent a third class of ...Francisco Beas, Stephan Hutter, Ferran Balbastre‐Úbeda, Sandra Novoa‐Jáuregui, Maria Gabarrós‐Subirà, Eulalia Genescà, Petri Pölönen, Torsten Haferlach, Andrés Jerez +8 morewiley +1 more sourceVascular Endothelial Growth Factor Variants (936C/T, 634C/G, 2578A/C) and Their Genotype–Haplotype Association with Recurrent Implantation Failure in Infertile Women: A Single-Center Analytical Study
DiagnosticsBackground: Vascular Endothelial Growth Factor (VEGF) is a key regulator in angiogenesis and contributes to a successful implantation. The current study has the following objective: to perform genotyping and haplotyping analysis to confirm whether the ...Lucia Maria Procopciuc, Mihaela Iancu, Gabriela Valentina Caracostea, Iulian Goidescu, Adelina Staicu, Roxana Liana Lucaciu, Adriana Corina Hangan, Sidonia Gog Bogdan, Mihai Surcel +8 moredoaj +1 more sourceProgressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)
Movement Disorders Clinical Practice, EarlyView.Background
Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective
To characterize the demographic, clinical, and phenotypic profiles of a large Prashanth Lingappa Kukkle, Divyani Garg, Jacky Ganguly, Soaham Desai, Rukmini Mridula Kandadai, Sahil Mehta, Pettarusp Murzban Wadia, Deepika Joshi, Lulup Sahoo, Vijayashankar Paramanandam, Taallapalli Ashok Vardhan Reddy, Adreesh Mukherjee, Syam Krishnan, Kuldeep Shetty, Charulata Sankhla, Pankaj Agarwal, Heli S. Shah, Suvorit Bhowmick, Mitesh Chandarana, Malini Venkata, Thenral S. Geetha, Ramesh Menon, Sandeep Charugulla, Sakthivel Murugan, Ravi Gupta, Niraj Kumar, Atanu Biswas, Hrishikesh Kumar, Rupam Borgohain, Huw Morris, Vedam. L Ramprasad, Parkinson's Research Alliance of India (PRAI) and the Global Parkinson's Genetic Program (GP2) +31 morewiley +1 more sourceBiomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy
Movement Disorders, EarlyView.Abstract Background
Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari +27 morewiley +1 more sourcePrognosis in Parkinson's Disease: An Individual Patient Data Meta‐Analysis of Six European Incidence Cohorts
Movement Disorders, EarlyView.Abstract Background
An accurate understanding of prognosis in Parkinson's disease (PD) is important for patient information provision, personalized treatment, and clinical trial design, but most previous research has been biased towards younger, healthier patients.Angus D. Macleod, David J. McLernon, Marta Camacho, Caroline H. Williams‐Gray, Rachael A. Lawson, Alison J. Yarnall, David Bäckström, Lars Forsgren, Jodi Maple‐Grødem, Guido Alves, Ole‐Bjørn Tysnes, Carl E. Counsell, Parkinson's Incidence Cohorts Collaboration, Thomas Foltynie, Sarah L. Mason, Ruwani Wijeyekoon, Jonathan Evans, David P. Breen, Gemma Cummins, Krista Farrell, Kirsten Scott, Tom Stoker, Julia Greenland, Natalie Valle Guzman, Lucy Collins, Simon Stott, Jan Linder, Mona Edström, Jörgen Andersson, Linda Eriksson, Gun‐Marie Hariz, Magdalena Domellöf, Michaela Dreetz Gjerstad, Kenn Freddy Pedersen, Elin Bjelland Forsaa, Veslemøy Hamre Frantzen, Anita Laugaland, Johannes Lange, Karen Simonsen, Eldbjørg Fiske, Ingvild Dalen, Bernd Müller, Geir Olve Skeie, Marit Renså, Wenche Telstad, Aliaksei Labusau, Jane Kastet, Ineke HogenEsch, Marianne Kjerandsen, Liv Kari Håland, Karen Herlofson, Solgunn Ongre, Siri Bruun, David Burn, Lynn Rochester, Gordon W. Duncan, Tien K. Khoo, Kate S. M. Taylor, Robert Caslake, David J. M. McGhee, Diane Swallow, Joanne Gordon, Clare Harris, Ann Hayman, Nicola Johannesson, Hazel Forbes, Valerie Angus, Alasdair Finlayson, David Dawson, Katie Wilde, David Ritchie, Artur Wozniak, Adrian Martin +72 morewiley +1 more sourceCo‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review
Movement Disorders, EarlyView.Abstract
Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee +10 morewiley +1 more sourceHeterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background
In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives
To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian +15 morewiley +1 more sourceFrequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort
Movement Disorders, EarlyView.Abstract Background
Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.Annie Chen, Udbhav Avadhani, Kathie Ngo, Rosario I. Corona, George de V. Carvalho Neto, Karla P. Figueroa, Undiagnosed Diseases Network, Arian Nouraee, Carlos Prada, Erica Davis, Kai Lee Yap, Kelly Regan‐Fendt, María Paula Silva, Patrick McMullen, Alyssa A. Tran, Arjun Tarakad, Brendan H. Lee, Carlos A. Bacino, Christine M. Eng, Daryl A. Scott, Elaine Seto, Hongzheng Dai, Hsiao‐Tuan Chao, Hugo J. Bellen, Ivan Chinn, James P. Orengo, Jared Sninsky, Jill A. Rosenfeld, Kim Worley, Lauren Blieden, Lindsay C. Burrage, Lorraine Potocki, Michael F. Wangler, Monika Weisz Hubshman, Pengfei Liu, Richard A. Lewis, Ronit Marom, Sandesh Nagamani, Seema R. Lalani, Shamika Ketkar, Shinya Yamamoto, Tiphanie P. Vogel, William J. Craigen, Alan H. Beggs, Ganesh Mochida, Gerard T. Berry, Ingrid A. Holm, Lance H. Rodan, Tina Truong, Wendy Chung, David Chiang, Deepak A. Rao, J. Carl Pallais, Joseph Loscalzo, Jose Abdenur, Maija‐Rikka Steenari, Rebekah Barrick, Richard Chang, Cara Skraban, Gonench Kilich, Kathleen Sullivan, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Anne Slavotinek, Christopher Mayhew, Eneida Mendonca, Ziyuan Guo, Kelly Schoch, Mohamad Mikati, Nicole M. Walley, Rebecca C. Spillmann, Vandana Shashi, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Shilpa N. Kobren, Ayuko Iverson, Bruce Gelb, Charlotte Cunningham‐Rundles, Eric Gayle, Joanna Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla M. Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Elizabeth Wohler, Julie Hoover‐Fong, Kathleen Page, Matthew Robinson, Nara Sobreira, Paul Auwaerter, Winston Timp, Yuka Manabe, David A. Sweetser, Frances High, Lauren C. Briere, Melissa Walker, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, Eric Klee, Filippo Pinto e Vairo, Ian R. Lanza, Kahlen Darr, Lindsay Mulvihill, Lisa Schimmenti, Queenie Tan, Abdul Elkadri, Brett Bordini, Donald Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael T. Zimmermann, Herman Taylor, Rakale C. Quarells, Andrea Gropman, Barbara N. Pusey Swerdzewski, Ben Afzali, Ben Solomon, Camilo Toro, Colleen E. Wahl, Cynthia J. Tifft, David R. Adams, Donna Novacic, Elizabeth A. Burke, Ellen F. Macnamara, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Maria T. Acosta, Marie Morimoto, Marla Sabaii, May Christine V. Malicdan, Neil Hanchard, Orpa Jean‐Marie, Precilla D'Souza, Valerie V. Maduro, Wendy Introne, William A. Gahl, Yan Huang, Vaidehi Jobanputra, Chun‐Hung Chan, D Isum Ward, Francisco Bustos, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Emily Shelkowitz, Eric Allenspach, Katrina Dipple, Seth Perlman, Beth A. Martin, Chloe M. Reuter, Devon Bonner, Euan A. Ashley, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Shruti Marwaha, Stephen B Montgomery, Suha Bachir, Tanner D Jensen, Taylor Maurer, Terra R. Coakley, Dana Sayer, Jennifer Tousseau, Aleksandra Foksinska, Andrew B. Crouse, Anna Hurst, Brandon M Wilk, Bruce R Korf, Elizabeth A Worthey, Kaitlin Callaway, Martin Rodriguez, Matthew Might, Pongtawat Lertwilaiwittaya, Reaford Blackburn, Teneasha Washington, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Kirsten Blanco, Sanaz Attaripour, Tahseen Mozaffar, Alden Huang, Andres Vargas, Brent L. Fogel, George Carvalho, Julian A. Martínez‐Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Carson A. Smith, Deborah Barbouth, Guney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Mustafa Tekin, Nicholas Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Monte Westerfield, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, Gabor Marth, John Carey, Lorenzo Botto, Matt Velinder, Nicola Longo, Paolo Moretti, Pinar Bayrak‐Toydemir, Rebecca Overbury, Rong Mao, Russell Butterfield, Steven Boyden, Thomas J. Nicholas, Andrew Stergachis, Danny E. Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian Glass, Kathleen A. Leppig, Mark Wener, Martha Horike‐Pyne, Michael Bamshad, Peter Byers, Runjun Kumar, Sirisak Chanprasert, Virginia Sybert, Wendy Raskind, Alyson Krokosky, Ashley McMinn, Cathy Shyr, Eric Gamazon, John A. Phillips, Joy D. Cogan, Kimberly Ezell, Lakshitha Perera, Lisa Bastarache, Lynette Rives, Mary Koziura, Rizwan Hamid, Thomas Cassini, Alex Paul, Dana Kiley, Daniel Wegner, Dustin Baldridge, F. Sessions Cole, Jennifer Wambach, Jimann Shin, Kathleen A. Sisco, Lilianna Solnica‐Krezel, Patricia Dickson, Stephen C. Pak, Timothy Schedl, Lauren Jeffries, María José Ortuño Romero, Odelya Kaufman, Teodoro Jerves Serrano, Yong‐Hui Jiang, Susan Perlman, Stefan M. Pulst, Stanley F. Nelson, Darice Wong, Brent L. Fogel +320 morewiley +1 more source
