Results 201 to 210 of about 293,955 (289)

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

A case of autosomal dominant polycystic kidney disease with multiple bilateral spontaneous retroperitoneal hemorrhages. [PDF]

CEN Case Rep
Mizuta M, Suwabe T, Oba Y, Sekine A, Yamanouchi M, Mizuno H, Hasegawa E, Wada T, Fukuda M, Miyazono M, Sawa N, Ubara Y.   +11 more
europepmc   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, EarlyView.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Overweight and Obesity are Associated with Lower Renal Blood Flow in Autosomal Dominant Polycystic Kidney Disease. [PDF]

Kidney Blood Press Res
Birznieks CL, Wang W, Steele C, You Z, Gitomer B, Chonchol M, Nowak KL.   +6 more
europepmc   +1 more source

Autosomal dominant hypocalcemia [PDF]

, 2020
openaire   +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

Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man. [PDF]

Cureus
Khorsan R, Arman F, Sarkar M.
europepmc   +1 more source

Brain volume trajectories in Down syndrome and autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement
Kennedy JT, Wisch JK, Boerwinkle AH, Millar PR, McKay NS, Brickman AM, Chhatwal JP, Mendez PC, Christian BT, Cohen A, Cruchaga C, Daniels A, Flores S, Handen BL, Hartley SL, Head E, Ibanez L, Krisnsky-McHale SJ, la Fougere C, Lai F, Laymon CM, Lee JH, Lee JH, Levin J, Llibre-Guerra J, Aguillon DF, Lott IT, Mapstone M, McDade E, Morris J, O'Bryant SE, Price JC, Rafii MS, Roh JH, Rosas HD, Schupf N, Supnet-Bell C, Xiong C, Zaman S, Benzinger TLS, Gordon BA, Ances BM, Alzheimer's Brain Consortium – Down Syndrome, and the Dominantly Inherited Alzheimer's Network.   +43 more
europepmc   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source