Results 191 to 200 of about 207,744 (307)

Alagille syndrome- A rare autosomal dominant disorder [PDF]

Al Ameen Journal of Medical Sciences, 2018
Rizwan-U-Zama, Nazeer Ahmad Jeergal, Naushad Ali N. Malagi, Ravindra G. Naganoor, Syeda Umme Uzra Kaleem   +4 more
doaj  

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

Archives of Plastic Surgery, 2014
Stefania Tenna, Mauro Barone, Pierluigi Gigliofiorito, Paolo Persichetti   +3 more
doaj   +1 more source

Sex differences in diffusion-weighted imaging outcomes in autosomal dominant Alzheimer's disease. [PDF]

Brain Commun
Giudicessi A, Koops E, Baena A, Alvarez S, Vidal M, Martinez L, Bonillas Félix NA, Gonzalez I, Medrano R, Tristão-Pereira C, Malotaux V, He B, Vila-Castelar C, Jacobs HIL, Aguillon D, Cronin-Golomb A, Quiroz YT.   +16 more
europepmc   +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

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

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

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

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 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

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source