Results 91 to 100 of about 19,593 (221)

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

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks [PDF]

, 2016
Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring.
Abastado, Abeliovich, Acharya, Achiron, Alan E. Tomkinson, Amiel, Anderson, Arturo López Castel, Ashizawa, August B. Pearson, Axford, Aziz, Barnes, Brunner, Cami, Campbell, Carraway, Cereghini, Christopher E. Pearson, Chung, Clark, Cleary, Cleary, Cleary, Conley, Dean, Debrauwère, Dragileva, Du, Edelmann, Erdeniz, Erdile, Farrell, Fishel, Foiry, Freudenreich, Gagan B. Panigrahi, Genschel, Giordano, Goetz, Hashem, Haugen, Hay, Hou, Jackson, Jaworski, Kang, Kantartzis, Kleczkowska, Kovtun, Kow, Levin, Li, Lin, Liu, Lopez Castel, Lopez Castel, Lopez de Munain, Lu, Mackenney, Manley, Marcadier, Martorell, Masih, Mason, Matsumura, Meghan M. Slean, Miret, Miret, Nahhas, Nenguke, Norremolle, O'Hoy, Palombo, Panigrahi, Panigrahi, Panigrahi, Panigrahi, Parniewski, Pavlov, Pearson, Pearson, Petes, Prigent, Puymirat, Risinger, Romanova, Savouret, Savouret, Schmidt, Schneider, Schumacher, Schweitzer, Seriola, Sharp, Shelbourne, Slean, Srivatsan, Stillman, Stillman, Stillman, Tam, Tang, Tome, Tome, van den Broek, Vassilev, Westmoreland, Wheeler, Yang, Zhang   +110 more
core   +2 more sources

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

Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]

, 2016
Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F, Choi, Jongkyu, Comai, Lucio, Dansithong, Warunee, Dixon, Donald M, Jordan, Maria C, Lee, Han Shin, Reddy, Sita, Roos, Kenneth P, Trac, Brandon   +9 more
core   +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

Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae. [PDF]

PLoS Genetics, 2011
Repetitive DNA elements are mutational hotspots in the genome, and their instability is linked to various neurological disorders and cancers. Although it is known that expanded trinucleotide repeats can interfere with DNA replication and repair, the ...
Rangapriya Sundararajan, Catherine H Freudenreich   +1 more
doaj   +1 more source

Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]

, 2013
Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
core   +2 more sources

Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's Disease

Movement Disorders, EarlyView.
Abstract Background Huntington's disease (HD) is characterized by early, selective, progressive vulnerability of striatal medium spiny neurons (MSNs). Proenkephalin (PENK), a precursor of opioid peptides abundantly expressed in MSNs, is a promising biomarker of striatal integrity, but region‐specific associations and its potential for early‐stage ...
Mena Farag, Michael J. Murphy, Nicola Z. Hobbs, Michela Leocadi, Kate Fayer, Olivia Thackeray, Johan Gobom, Marc Ciosi, Amanda Heslegrave, Henrik Zetterberg, Douglas R. Langbehn, Darren G. Monckton, Edward J. Wild, Sarah J. Tabrizi, Rachael I. Scahill   +14 more
wiley   +1 more source

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source