Results 241 to 250 of about 176,215 (308)

Early-onset diabetes with low utilization of lipid as an energy source carrying a rare missense mutation in the CEL gene. [PDF]

Endocrinol Diabetes Metab Case Rep
Fujii A, Nakabayashi H, Nagao Y, Akiyama M, Taguchi A, Yorimoto K, Hamada R, Saeki I, Yamamoto N, Takami T, Watanabe K, Mizukami Y, Ohta Y.   +12 more
europepmc   +1 more source

Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families. [PDF]

Ann Hematol
Amri Y, Fredj SH, Dabboubi R, Othmani R, Sahli C, Baccouche I, Ouali F, Messaoud T.   +7 more
europepmc   +1 more source

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review. [PDF]

Mol Genet Genomic Med
Yang W, Zhou J, Si N, Zhang X.
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]

Biomed Rep
Singh KG, Moorthy A.
europepmc   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.

J Clin Endocrinol Metab
Weng R, Li X, Yue H, Xu Y, Wei Z, Xu S, Li B, Zhang Z.   +7 more
europepmc   +1 more source

Case Report: <i>De novo USP9X</i> missense mutation in a male fetus with pulmonary atresia and ventricular septal defect: expanding the genotype-phenotype spectrum of <i>USP9X</i>-related disorders. [PDF]

Front Cardiovasc Med
Man T, Sun H, Hao X, Liu X, He Y.
europepmc   +1 more source

Increased Serum Neurofilament Light Chain Levels in Parkinson's Disease Patients Carrying the p.A53T SNCA Mutation: Data from the Parkinson's Progression Markers Initiative Study

Movement Disorders, EarlyView.
Abstract Background Serum neurofilament light chain (NfL) levels, a marker of axonal damage, are generally elevated in neurodegenerative conditions, but results in idiopathic Parkinson's disease (iPD) have been inconsistent. The p.A53T SNCA mutation usually leads to a severe form of PD.
Nikolaos Papagiannakis, Christos Koros, Athina‐Maria Simitsi, Leonidas Stefanis, and The Parkinson's Progression Markers Initiative, Kenneth Marek, Tanya Simuni, Andrew Siderowf, Caroline Tanner, Thomas F Tropea, Tatiana Foroud, Lana Chahine, Brit Mollenhauer, Kalpana Merchant, Douglas Galasko, Christopher Coffey, Kathleen Poston, Roseanne Dobkin, Ethan Brown, Roy Alcalay, Dan Weintraub, Emily Flagg, Kimberly Fabrizio, Susan Bressman, Cornelis Blauwendraat, Paola Casalin, Sonya Dumanis, Raymond James, Karl Kieburtz, Sneha Mantri, Werner Poewe, Michael Schwarzschild, John Seibyl, David Standaert, Duygu Tosun‐Turgut, Sohini Chowdhury, Jamie Eberling, Mark Frasier, Leslie Kirsch, Katie Kopil, Maggie Kuhl, Alyssa O'Grady, Todd Sherer, Tawny Willson, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Christine Kohnen, Tatiana Foroud, Laura Heathers, Christopher Hobbick, John Seibyl, Christopher Coffey, Chelsea Caspell‐Garcia, Michael Brumm, Arthur Toga, Karen Crawford, Tatiana Foroud, Jan Hamer, Brit Mollenhauer, Doug Galasko, Kalpana Merchant, Andrew Singleton, Tatiana Foroud, Dirk Keene, Caroline Tanner, Ethan Brown, Carlie Tanner, Ethan Brown, Lana Chahine, Roseann Dobkin, Monica Korell, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Sebastian Schade, Douglas Galasko, Anat Mirelman, Roy Alcalay, Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Marina Picillo, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber, Joy Antala, Carla Aranda, Karen Williams, Sophia Melton, Karina Benson, Ashwini Ramachandran, Danielle Potts, Grace LaMoure, Ritikha Vengadesh, Ryan Manzler, Jaime Heller, Primi Ranola, Farah Kausar, Sherri Mosovsky, Diana Willeke, Elizabeth Kalinkara Gomez, Janelle Rodriguez, Nobuko Kemmotsu, May Eshel, Deborah Raymond, Abigail Desrosiers, Raymond James, Lauren Jackson, Iris Egner, Wesley Schlett, Courtney Blair, Lauren Ruffrage, Berenice Sevilla, Barbara Sommerfeld, Dustin Le, Erica Botting, Gabriella Mazur, Daniele Derlein, Evan Doll, Ying Liu, Ciera Cobb, Olivia Masiewicz, Jennifer Mule, Michael Morsillo, Ella Hilt, Aldazier Jakiran, Dominga Valentino, Lisbeth Pennente, Bobbie Stubbeman, Alicia Garrido, Valeria Ravasi, Ioana Croitoru, Christos Koros, Nikolas Papagiannakis, Frank Ferrari, Mengyu Zheng, Shawna Reddie, Alicia Alejandra, Andrea Gray, Alejandra Valenzuela, Caitlin Goodman, Sara Dresler, Neil Santos, Fahrial Esha, Kyle Rizer, Nadine Zablith, Liliana Dumitrescu, Debra Galley, Victoria Kate Foster, Jamil Razzaque, Madita Grümmer, Yara Krasowski, Natalie Donkor, Elisabeth Sittig, Oluwadamilola Ojo, Kelly Clark, Rory Mahabir, Kori Ribb, Shamera Willoughby   +213 more
wiley   +1 more source