Results 11 to 20 of about 7,386 (125)

Mutations in TITF-1 are associated with benign hereditary chorea [PDF]

, 2002
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in ...
Arts, W.F.M. (Willem Frans), Breedveld, G.J. (Guido), Danesino, C. (Cesare), Dongen, J.W.F. (Jeroen) van, Dure, L.S., Grüters, A. (Annette), Guala, A. (Andrea), Harper, P., Heutink, P. (Peter), Joosse, M. (Marijke), Krude, H., Lazarou, L.P., Linde, H. van der, MacDonald, M.E., Oostra, B.A. (Ben), Percy, A.K., Vries, B.B.A. (Bert) de   +16 more
core   +9 more sources

How young people find out about their family history of Huntington's disease [PDF]

, 2009
Family communication about adult-onset hereditary illness can be problematic, leaving some relatives inadequately informed or ignorant of their risk.
Forrest Keenan, Karen, McKee, Lorna, Miedzybrodzka, Zosia, Simpson, Sheila A., van Teijlingen, Edwin   +4 more
core   +1 more source

Analyzing the gene expression profile of pediatric acute myeloid leukemia with real-time PCR arrays

Cancer Cell International, 2012
Background The Real-time PCR Array System is the ideal tool for analyzing the expression of a focused panel of genes. In this study, we will analyze the gene expression profile of pediatric acute myeloid leukemia with real-time PCR arrays.
Yan-Fang Tao, Dong Wu, Li Pang, Wen-Li Zhao, Jun Lu, Na Wang, Jian Wang, Xing Feng, Yan-Hong Li, Jian Ni, Jian Pan   +10 more
doaj   +1 more source

The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe [PDF]

, 2013
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study.
Aad Tibben, Bernhard Landwehrmeyer, C Dancyger, CE Levers, Christine Eiser, EA Earle, EA Earle, ET Gendlin, Ferdinando Squitieri, G Bruyn, G Nicolas, G Ronen, Helen Santini, HM Brewer, HM Brewer, HM Brewer, HM Brewer, I Epstein, JA Smith, JA Smith, JA Smith, Jonathan A Smith, Katie Lee Weille, M Dixon-Woods, M Orth, M Rawlins, MA Nance, Maria Rakowicz, Marie-Louise Goller, Martina Petrollini, Matteo Paduanello, MJ Novak, O Quarrell, Oliver Quarrell, P Lagerlove, P Ribbai, PJ Morrison, RA Barker, S Michie, T Hoppitt, Virginia Eatough, Wioletta Krysa, ‘Annunziata’ de Nicola   +42 more
core   +1 more source

Limited effect of chronic valproic acid treatment in a mouse model of Machado-Joseph disease [PDF]

, 2015
Machado-Joseph disease (MJD) is an inherited neurodegenerative disease, caused by a CAG repeat expansion within the coding region of ATXN3 gene, and which currently lacks effective treatment.
A Barbeau, A Ornoy, A Silva-Fernandes, A Silva-Fernandes, A Teixeira-Castro, A Verrotti, A Verrotti, A-H Chou, AG Kazantsev, Ana Cristina Rego, Anabela Silva-Fernandes, Andreia Neves-Carvalho, Andreia Teixeira-Castro, BO Evert, C Rouaux, C Xie, CA Ross, CK Martin, CL Corman, CMF Pereira, Convenor M Mähler, D Zádori, DG Goodwin, E Hahnen, E Hockly, E Perucca, EC Wirrell, FA Sultan, G Hoffner, G Rosenberg, H Liu, H-L Feng, J Clayton-Smith, J Isojärvi, J Yamauchi, J Yamauchi, J Yi, JA Morris, JA Rafael, JH Zar, JJ Weber, JS Steffan, K Hoffmann, K Seidel, KBJ Franklin, L Lima, L Mologni, L Tremolizzo, L-K Tsai, LM Valor, Luana Naia, M Minamiyama, MS Gorbatyuk, P Coutinho, P Genton, Patrícia Maciel, Pedro Gonzalez-Alegre, PO Bauer, RH Stauber, RJ Carter, RJ Ferrante, RK Reddy, RS Akhtar, S Grosso, Sara Duarte-Silva, Sofia Esteves, U Rüb, U Rüb, U Rüb, U Rüb, W Löscher, XP Lin, Y Kawaguchi, Y Shi   +73 more
core   +11 more sources

Na+ channel β subunits: Overachievers of the ion channel family

Frontiers in Pharmacology, 2011
Voltage gated Na+ channels (VGSCs) in mammals contain a pore-forming α subunit and one or more β subunits. There are five mammalian β subunits in total: β1, β1B, β2, β3, and β4, encoded by four genes: SCN1B-SCN4B.
William J Brackenbury, Lori L Isom
doaj   +1 more source

Is there a right time to know? The right not to know and genetic testing in children [PDF]

, 2014
The increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-toconsumers has increased the availability of previously inaccessible genetic information.
Borry, Pascal, Howard, Heidi, Shabani, Mahsa   +2 more
core   +2 more sources

Service-based survey of dystonia in Munich [PDF]

, 2002
We performed a service-based epidemiological study of dystonia in Munich, Germany. Due to favourable referral and treatment patterns in the Munich area, we could provide confident data from dystonia patients seeking botulinum toxin treatment.
Ben-Shlomo, Y., Ceballos-Baumann, Andres, Conrad, B., Gasser, T., Kamm, C., Konkiewitz, E. C., Trender-Gerhard, I., Warner, T.   +7 more
core   +1 more source

Altered relationship between electrophysiological response to errors and gray matter volumes in an extended network for error‐processing in pediatric obsessive‐compulsive disorder [PDF]

, 2014
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106762/1/hbm22240 ...
Araki, Ashburner, Ashburner, Beste, Brazdil, Brazdil, Davies, Debener, Dehaene, Endrass, Evans, Falkenstein, Gehring, Gehring, Gehring, Geller, Good, Gratton, Haber, Hajcak, Hajcak, Hajcak, Hanna, Hogan, Holroyd, Hudziak, Johannes, Kassubek, Kaufman, Kerns, Kessler, Leckman, Mathalon, Matthews, Menon, Menon, Micali, Milad, Nachev, Nelson, Nieuwenhuis, Peinemann, Pitman, Polli, Radua, Ridderinkhof, Ridderinkhof, Rotge, Santesso, Scahill, Schwartz, Shaw, Stemmer, Stern, Stern, Stewart, Swick, Szeszko, Taylor, Ullsperger, Ullsperger, Ullsperger, Ursu, Veen, Vidal   +64 more
core   +2 more sources

A Randomized, Double-blind, Placebo-Controlled Study of Latrepirdine in Patients With Mild to Moderate Huntington Disease. [PDF]

, 2013
BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease ...
DE MICHELE, GIUSEPPE, European Huntington's Disease Network, HORIZON Investigators of the Huntington Disease Study Group, SACCA', FRANCESCO, SALVATORE, ELENA   +4 more
core   +1 more source