Results 81 to 90 of about 39,354 (231)

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Clinical and genetic study of a juvenile⁃onset Huntington disease

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Background Huntington's disease (HD) is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment.
Ying HAO, Yuan⁃yuan CHEN, Wei⁃hong GU, Guo⁃xiang WANG, Hui⁃zi MA, Li⁃lin LI, Kang WANG, Miao JIN, Xiao⁃hui DUAN   +8 more
doaj  

Sex Differences in Fall Frequency, Risk Factors, and Outcomes in Parkinson's Disease: A Cross‐Sectional Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Female sex is an independent fall risk factor in Parkinson's disease (PD), yet sex‐specific fall patterns remain unclear. Objectives To compare sex‐specific fall risk and outcomes across PD, prodromal alpha‐synucleinopathy (PAS), and healthy controls (HC); estimate fall frequency across PD progression; and assess how sex modifies ...
Joaquin A. Vizcarra, Kat Hefter, David‐Erick Lafontant, Michael Tran Duong, Ashkan Ertefaie, Brian Litt, Dani S. Bassett, Andrew Siderowf, The Parkinson's Progression Markers Initiative, Kenneth Marek, Caroline Tanner, Tanya Simuni, Andrew Siderowf, Douglas Galasko, Lana Chahine, Christopher Coffey, Kalpana Merchant, Kathleen Poston, Roseanne Dobkin, Tatiana Foroud, Brit Mollenhauer, Dan Weintraub, Ethan Brown, Karl Kieburtz, Mark Frasier, Todd Sherer, Sohini Chowdhury, Roy Alcalay, Aleksandar Videnovic, Duygu Tosun‐Turgut, Werner Poewe, Susan Bressman, Jan Hammer, Raymond James, Ekemini Riley, John Seibyl, Leslie Shaw, David Standaert, Sneha Mantri, Nabila Dahodwala, Michael Schwarzschild, Connie Marras, Hubert Fernandez, Ira Shoulson, Helen Rowbotham, Paola Casalin, Claudia Trenkwalder, Todd Sherer, Sohini Chowdhury, Mark Frasier, Jamie Eberling, Katie Kopil, Alyssa O’Grady, Maggie McGuire Kuhl, Leslie Kirsch, Tawny Willson, Emily Flagg, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Trevis Huff, Tatiana Foroud, Laura Heathers, Christopher Hobbick, Gena Antonopoulos, John Seibyl, Kathleen Poston, Christopher Coffey, Chelsea Caspell‐Garcia, Michael Brumm, Bioinformatics Core, Arthur Toga, Karen Crawford, Tatiana Foroud, Jan Hamer, Brit Mollenhauer, Doug Galasko, Kalpana Merchant, Andrew Singleton, Tatiana Foroud, Thomas Montine, Caroline Tanner, Carlie Tanner, Ethan Brown, Lana Chahine, Roseann Dobkin, Monica Korell, Charles Adler, Roy Alcalay, Amy Amara, Paolo Barone, Bastiaan Bloem, Kathrin Brockmann, Norbert Brüggemann, Lana Chahine, Kelvin Chou, Nabila Dahodwala, Alberto Espay, Stewart Factor, Hubert Fernandez, Michelle Fullard, Douglas Galasko, Penelope Hogarth, Shu‐Ching Hu, Michele Hu, Stuart Isaacson, Christine Klein, Rejko Krueger, Mark Lew, Zoltan Mari, Connie Marras, Maria Jose Martí, Nikolaus McFarland, Tiago Mestre, Brit Mollenhauer, Emile Moukheiber, Alastair Noyce, Wolfgang Oertel, Njideka Okubadejo, Sarah O’Shea, Rajesh Pahwa, Nicola Pavese, Werner Poewe, Ron Postuma, Giulietta Riboldi, Lauren Ruffrage, Javier Ruiz Martinez, David Russell, Marie H. Saint‐Hilaire, Neil Santos, Wesley Schlett, Ruth Schneider, Holly Shill, David Shprecher, Tanya Simuni, David Standaert, Leonidas Stefanis, Yen Tai, Caroline Tanner, Arjun Tarakad, Eduardo Tolosa, Aleksandar Videnovic, Susan Ainscough, Courtney Blair, Erica Botting, Isabella Chung, Kelly Clark, Ioana Croitoru, Kelly DeLano, Iris Egner, Fahrial Esha, May Eshel, Frank Ferrari, Victoria Kate Foster, Alicia Garrido, Madita. Grümmer, Bethzaida Herrera, Ella Hilt, Chloe Huntzinger, Raymond James, Farah Kausar, Christos Koros, Yara Krasowski, Dustin Le, Ying Liu, Taina M. Marques, Helen Mejia Santana, Sherri Mosovsky, Jennifer Mule, Philip Ng, Lauren O’Brien, Abiola Ogunleye, Oluwadamilola Ojo, Obi Onyinanya, Lisbeth Pennente, Romina Perrotti, Michael Pileggi, Ashwini Ramachandran, Deborah Raymond, Jamil Razzaque, Shawna Reddie, Kori Ribb, Kyle Rizer, Janelle Rodriguez, Stephanie Roman, Clarissa Sanchez, Cristina Simonet, Anisha Singh, Elisabeth Sittig, Angela Stovall, Bobbie Stubbeman, Alejandra Valenzuela, Catherine Wandell, Diana Willeke, Karen Williams, Dilinuer Wubuli   +197 more
wiley   +1 more source

The DIKW of Transcriptomics in Ecotoxicology: Extracting Information, Knowledge, and Wisdom From Big Data

Environmental Toxicology and Chemistry, EarlyView.
Jessica A. Head, Jessica D. Ewald, Niladri Basu   +2 more
wiley   +1 more source

Systematic Review of the Huntington's Disease Drug Development Pipeline, 2014 to 2025

Movement Disorders, EarlyView.
Abstract Background In the past decade, significant advances have improved our understanding of the mechanisms underlying HD pathobiology leading to several putative therapeutic targets for HD. Objective The aim was to describe the Huntington's disease (HD) drug development clinical pipeline.
Pavlina Konstantinova, Jenny Townhill, Juliana Bronzova, Viktoria Andreeva, Swati Sathe, Cristina Sampaio   +5 more
wiley   +1 more source

Branched‐Chain Amino and Keto Acids Reduce Hepatocyte Lipid Droplet Size and Number via Distinct Proteomic Pathways

PROTEOMICS, EarlyView.
ABSTRACT Branched‐chain amino acids (BCAA) and their corresponding keto acids (BCKA) have been associated with changes in hepatic lipid metabolism and the resulting alterations in intracellular triglyceride concentrations. In this study, we utilized a previously established hepatocyte model to investigate the impact of BCAA and BCKA supplementation on ...
Jayasimha R. Daddam, Mounica Sura, Edward Kolodziej, Maria Gojcaj, Zheng Zhou   +4 more
wiley   +1 more source

Aripiprazole in the treatment of Huntington’s disease: a case series

Neuropsychiatric Disease and Treatment, 2008
Andrea Ciammola1, Jenny Sassone1, Clarissa Colciago1, Niccolò E Mencacci1, Barbara Poletti1, Andrea Ciarmiello2, Ferdinando Squitieri3, Vincenzo Silani11Department of Neurology and Laboratory of Neuroscience, “Dino Ferrari”
Andrea Ciammola, Jenny Sassone, Clarissa Colciago, Niccolò E Mencacci, Barbara Poletti, et al   +5 more
doaj  

The Mycobacterium tuberculosis Rv0132c Gene Product Mtb‐FGD2 Can Act as an F420‐Dependent Glucose Dehydrogenase

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT The role of the cell envelope‐associated Rv0132c/FGD2 from Mycobacterium tuberculosis has long been a subject of debate. Importantly, FGD2 is found only in pathogenic mycobacteria, making it a potential drug target. While some suggest it functions as a glucose‐6‐phosphate dehydrogenase, others propose it acts instead as an F420‐dependent ...
Adewale V. Aderemi, Matthew Snee, Richard B. Tunnicliffe, Linus O. Johanissen, Matthew J. Cliff, Colin W. Levy, Derren J. Heyes, Marina Golovanova, Thomas A. Jowitt, Sam Hay, Andrew W. Munro, Jonathan P. Waltho, David Leys   +12 more
wiley   +1 more source

The Neuroprotective Effect of a Waste Byproduct Obtained From Pomegranate (Punica granatum)

Phytotherapy Research, EarlyView.
The Effect of a Waste Byproduct Obtained From Pomegranate on Neurodegeneration. ABSTRACT Pomegranate is an exceptional fruit that can have several beneficial effects on human health. The peel of pomegranate, a waste product, should be recovered as it still contains valuable constituents, including phenolic compounds, minerals and fibre. The recovery of
Jessica Maiuolo, Valeria Mazza, Rosamaria Caminiti, Francesca Oppedisano, Saverio Nucera, Salvatore Ragusa, Sara Ilari, Lucia Carmela Passacatini, Luigi Tucci, Giuseppe Trunfio, Vincenzo Mollace, Carolina Muscoli   +11 more
wiley   +1 more source

Huntington Disease [PDF]

Journal of Neuropathology and Experimental Neurology, 1998
J P, Vonsattel, M, DiFiglia
openaire   +2 more sources