Results 201 to 210 of about 178,919 (265)

Bone Phenotype in Autosomal Dominant Polycystic Kidney Disease. [PDF]

Calcif Tissue Int
Jankowska M, Magnusson P, Debowska M, Lindholm B, Qureshi AR, Lukaszuk T, Dębska-Ślizień A, Fuster DG, Stenvinkel P, Haarhaus M.   +9 more
europepmc   +1 more source

Early Longitudinal Brain Network Changes in Huntington's Disease Before Clinical Motor Onset

Movement Disorders, EarlyView.
Abstract Background Longitudinal studies of seed‐based functional connectivity (SBFC) in young adult Huntington's disease gene‐expanded (HDGE) individuals are rare, and none, to our knowledge, have examined adult cohorts decades from predicted clinical motor diagnosis.
Michela Leocadi, Nicola Z. Hobbs, Mena Farag, Michael J. Murphy, Kate Fayer, Olivia Thackeray, Harry Knights, James B. Rowe, Trevor W. Robbins, Barbara J. Sahakian, Geraint Rees, Rachael I. Scahill, Sarah J. Tabrizi, Christelle Langley   +13 more
wiley   +1 more source

Long-term forgetting, sleep, and tau in autosomal-dominant Alzheimer's disease. [PDF]

Alzheimers Dement
You JC, Bender AC, Berezuk C, Noriega-Makarskyy DT, Baena A, Munera D, Pardilla-Delgado E, Ramirez-Gomez L, Aguillon D, Giudicessi A, Martinez JE, Cronin-Golomb A, Lam AD, Quiroz YT.   +13 more
europepmc   +1 more source

Acute Post‐Partum Psychosis and Dystonia Reveals Late‐Onset MPAN

Movement Disorders Clinical Practice, EarlyView.
Mathilde Lachaume, Audrey Schalk, Nadège Calmels, Christine Tranchant, Ozanne de Andrade, Fabrice Berna, Mathieu Anheim, Thomas Wirth   +7 more
wiley   +1 more source

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

Case Report: Palopegteriparatide as a novel therapeutic option in pediatric autosomal dominant hypocalcemia type 1. [PDF]

Front Endocrinol (Lausanne)
Zygmunt A, Fedorczak A, Krotowski Ł, Łupińska A, Sałacińska K, Gach A, Mannstadt M, Stawerska R.   +7 more
europepmc   +1 more source

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]

J Med Genet
Graham SA, McCabe A, Harrison V, Castleman J, Doyle S, Allen S.   +5 more
europepmc   +1 more source

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease

Movement Disorders, EarlyView.
Chia‐Ying Ko, Leon Schütz, Thomas Braun, Elena Buena‐Atienza, Nicolas Casadei, Danique Beijer, Ludger Schöls, Tobias B. Haack, Stephan Ossowski, Holger Hengel   +9 more
wiley   +1 more source

Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America. [PDF]

Alzheimers Dement
Jiménez DA, Bagnati PM, Flores-Montes RE, Fernández ML, Zuno-Reyes A, Aguillon D, Alaez-Verson C, Becerra-Solano LE, Behrens MI, Branda K, Chrem P, Custodio N, Ducaine W, Dumois-Petersen S, Figuera L, Castaño ML, Longoria EM, Matute E, Sánchez V, Slachevsky A, Sosa AL, Surace E, Takada L, Yaeger L, Ziegemeier E, Guerra JJL, Programa de asesoramiento genético en América Latina (PRAGA).   +26 more
europepmc   +1 more source

Endothelial dysfunction: A central mechanism linking autosomal dominant polycystic kidney disease and intracranial aneurysms (Review). [PDF]

Int J Mol Med
Xu X, Xu R, Zhang L.
europepmc   +1 more source