Results 181 to 190 of about 79,932 (302)

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

A context-specific evaluation of polygenic embryo screening in best-prognosis preimplantation genetic testing cycles. [PDF]

Hum Reprod Open
Wang Q, Zeng S, Chen Z, Hu L, Hu X, Xie P, Du J, Xu X, Lu G, Tan Y, Lin G.   +10 more
europepmc   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source

Clinical characteristics and prognosis of infant onset inflammatory bowel disease in Chinese children: a 10-year single-center experience. [PDF]

Transl Pediatr
Du J, Guan D, Ye X, Zhang T, Wu J.
europepmc   +1 more source

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI‐Based Study

Movement Disorders, EarlyView.
Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos, Camila Caroso Lobo, Thiago Junqueira Ribeiro Rezende, Alberto Rolim Muro Martinez, Luiza A. Corazza, Luiz Eduardo Novis, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Pedro José Tomaselli, Wilson Marques Jr, Antônio Carlos dos Santos, David Pellerin, Bernard Brais, Roberta La Piana, Jemimah Harding, Penny Snell, Paul J. Lockhart, David Szmulewicz, Ian H. Harding, Marcondes Cavalcante França Jr   +19 more
wiley   +1 more source

Human genetic evidence challenges NCOA1 as a monogenic obesity gene. [PDF]

Cell Rep Med
Delplanque J, Leloire A, Le Collen L, Loiselle H, Toussaint B, Vaillant E, Allegaert F, Beke T, Charpentier G, Franc S, Balkau B, Marre M, Henriques E, Falay EB, Derhourhi M, Froguel P, Bonnefond A.   +16 more
europepmc   +1 more source

α‐Synuclein Seeding Discriminates Between LRRK2 G2019S Variant Carriers with and Without Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Reliable biomarkers for Parkinson's disease (PD) pathology detection are essential for research. α‐Synuclein (aSyn) seed amplification assay (SAA) is a validated biomarker for misfolded aSyn. Objective The aim was to assess the association between aSyn SAA and LRRK2‐related PD (LRRK2‐PD) and its link to mitochondrial genetic burden.
Theresa Lüth, Carolin Gabbert, Teresa Kleinz, Christoph Much, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Matthew Farrer, Brian Fiske, Cornelis Blauwendraat, Christine Klein, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +13 more
wiley   +1 more source

Interferon-targeted therapy with anifrolumab in monogenic pediatric systemic lupus erythematosus due to C1q deficiency: a case report. [PDF]

Front Pediatr
Alqahtani SM, Asiri AM, Aljuaid MA.
europepmc   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Adult‐Onset Dystonia Related to PRKRA (DYT16): A Predictor of Favorable Deep Brain Stimulation Outcome

Movement Disorders Clinical Practice, EarlyView.
Ingrid Lorena da Silva Gomes, Eduardo Drews Amorim, Juan Sebastián Sánchez León, Thomas Hugentobler Schlickmann, Yuri Ferreira Felloni Borges, Artur Francisco Schumacher Schuh, Daniel Teixeira‐dos‐Santos, Sheila Trentin, Thais Lampert Monte, Bruno Samuel Fraiman de Oliveira   +9 more
wiley   +1 more source