Results 211 to 220 of about 308,350 (333)

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

, 2008
Ikeda, Yoshio, Jackson, Mandy, Kawarabayashi, Takeshi, Kimura, Tamaki, Matsubara, Etsuro, Miki, Yasuo, Monai, Natsuki, Seino, Yusuke, Shoji, Mikio, Suzuki, Chieko, Tomiyama, Masahiko, Wakasaya, Yasuhito, Watanabe, Mitsunori, Yamamoto-Watanabe, Yukiko   +13 more
core   +1 more source

A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.

, 2010
Guishun Liu, Yunbo Li, Yanfei Ruan, Wenping Cao, Xin Li, Jiangyuan Qian, Jing-zhi Gu   +6 more
openalex   +1 more source

A stepwise approach for effective management of chronic pain in autosomal-dominant polycystic kidney disease [PDF]

, 2014
Niek F. Casteleijn, Folkert W. Visser, Joost P.H. Drenth, Tom J.G. Gevers, Gerbrand J. Groen, Michelle Hogan, Jack F.M. Wetzels, J.P.H. Drenth, J.W. de Fijter, R.T. Gansevoort, D.J.M. Peters, J. Wetzels, R. Zietse   +12 more
openalex   +1 more source

Huntington's Disease and Huntington's Disease‐like 2 (HDL2) in Martinique

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Huntington's Disease‐like 2 (HDL2), caused by a CAG repeat expansion in JPH3, closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.
Ignacio Antolin‐Sanfeliz, Anna‐Gaelle Giguet‐Valard, Sophie Duclos, Cécile Cazeneuve, Chloé Angelini, Aïssatou Signaté, Russell L. Margolis, Cyril Goizet, Rémi Bellance   +8 more
wiley   +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

Development and Validation of a Brief Fall Questionnaire (FALL‐HD) for Patients with Huntington's Disease

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene on chromosome 4, leading to progressive cognitive decline, motor impairment, and functional disability. Falls represent the leading cause of nursing home placement in HD.
Japleen Kaur, Deng‐Yuan Liou, Krisha Bagga, Nadeen Youhanan, Andrew Hall, Paul E. Gilbert, Daniel J. Goble, Jody Corey‐Bloom   +7 more
wiley   +1 more source

Magnetic resonance imaging is effective for evaluating the therapeutic effect of tolvaptan on total kidney volume in patients with autosomal dominant polycystic kidney disease [PDF]

, 2018
Shuma Hirashio, Shigehiro Doi, Takao Masaki   +2 more
openalex   +1 more source

Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile‐Onset Huntington's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Multidisciplinary care has been advocated for Juvenile‐onset Huntington's Disease but there has been no detailed analysis of this. Objectives To evaluate the current economic costs of providing health care for patients with Juvenile‐onset Huntington's disease (JoHD) and to model the effects and economic costs of providing a ...
Tracey A. Young, Penny A. Curtis, Jill Thompson, Aileen K. Ho, Helen Santini, Oliver W. Quarrell   +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

GTP‐cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP‐CH1 deficiency: Identification and functional characterization of four novel mutations

, 2004
Barbara Garavaglia, Federica Invernizzi, Maria Luigia Carbone, Valeria Viscardi, Francesca Saracino, Daniele Ghezzi, Massimo Zeviani, Giovanna Zorzi, Nardo Nardocci   +8 more
openalex   +2 more sources