Results 221 to 230 of about 308,350 (333)

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

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Tolvaptan pharmacokinetics and pharmacodynamics in adolescents with autosomal dominant polycystic kidney disease. [PDF]

Eur J Pediatr
Shoaf SE, Sikes K.
europepmc   +1 more source

Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient

, 2020
Kwang Eon Shim, Chung Lee, Jin Up Kim, Gwang Ho Choi, Kyoung Min Kwak, Seok Hyung Kim, Hyunho Kim, Jong‐Woo Yoon, Tae Young Shin, Chang Wook Jeong, Hyunsuk Kim   +10 more
openalex   +1 more source

Studies on Irish families with autosomal dominant retinitis pigmentosa, congenital stationary night blindness and on mouse models of inherited retinopathies

, 2007
Paul F. Kenna
openalex   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Capturing Behavioral Symptoms in Huntington's Disease Using the Huntington's Disease‐Behavioral Questionnaire

Movement Disorders Clinical Practice, EarlyView.
Abstract Background The Huntington's Disease Behavioral Questionnaire (HD‐BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD‐BQ incorporates patient‐ and companion‐reported versions.
Siena Rigatuso, Krisha Bagga, Shelby Hughes, Japleen Kaur, Paul E. Gilbert, Jody Corey‐Bloom   +5 more
wiley   +1 more source

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia. [PDF]

J Neurol
Novarella F, Tessa A, Criscuolo C, Senerchia G, Nicolella V, Trovato R, Falco F, Cocozza S, Scaravilli A, Ruoppolo M, Caterino M, Terracciano D, Castaldo G, Brescia Morra V, Santorelli FM, Moccia M.   +15 more
europepmc   +1 more source

Safety and Efficacy of Bardoxolone Methyl in Patients with Autosomal Dominant Polycystic Kidney Disease

Shuchi Anand, Suneeta Chimalapati, Maria E. Montez‐Rath, Angie Goldsberry, Melanie Chin, Colin J. Meyer, Samina Khan, Rafael José Esteban de la Rosa, Arlene B. Chapman, Bradley A. Warady, Glenn M. Chertow   +10 more
openalex   +2 more sources

Autosomal dominant polycystic kidney disease

, 2020
Matt Morgan
openalex   +1 more source