Results 221 to 230 of about 293,955 (289)

A novel variant c.A527G in <i>ITGB4</i> leads to autosomal dominant epidermolysis bullosa in China. [PDF]

Front Med (Lausanne)
Li J, Yang X, He Y, Cheng P, Li H, Deng A, Wang X, Cai W, Hu J, Tang Q, Gao Y, Hu Y.   +11 more
europepmc   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification

Movement Disorders, EarlyView.
Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi, Giulia Bonato, Matilde Corazza, Irene Guerra, Francesca Pistonesi, Cinzia Bertolin, Leonardo Salviati, Angelo Antonini, Renzo Manara, Miryam Carecchio   +9 more
wiley   +1 more source

Epithelial Dynamics of Cystogenesis in Genetic Models of Autosomal Dominant Polycystic Kidney Disease. [PDF]

Cells
Sun M, Wu Z, Hu M, Luo W, Chen X, Ma M.
europepmc   +1 more source

White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer\u27s disease [PDF]

, 2018
Bateman, Randall J, Benzinger, Tammie L. S., Buckles, Virginia, Cairns, Nigel J, et al.,, Fagan, Anne M, Holtzman, David M, Marcus, Daniel S, McDade, Eric, Morris, John C   +9 more
core   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Contribution of local amyloid-β and tau burden to hypometabolism in autosomal-dominant Alzheimer's disease. [PDF]

Brain Commun
Tristão-Pereira C, Langella S, Baena A, Londono N, Sanchez JS, Martinez L, Alvarez S, Vidal M, Aguillon D, Su Y, Protas H, Properzi MJ, Malotaux V, He B, Giudicessi A, Reiman EM, Hanseeuw BJ, Quiroz YT.   +17 more
europepmc   +1 more source