Results 21 to 30 of about 5,067,029 (185)

Juvenile Huntington disease in Argentina [PDF]

Arquivos de Neuro-Psiquiatria, 2015
ABSTRACT We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international
Gatto, Emilia Mabel, Parisi, Virginia, Etcheverry, José Luis, Sanguinetti, Ana, Cordi, Lorena, Binelli, Adrian, Persi, Gabriel, Squitieri, Ferdinando   +7 more
openaire   +6 more sources

Juvenile Huntington's disease: a clinical case from a pediatric's practice

Клинический разбор в общей медицине, 2023
Background. Huntington's disease (Hd) is a hereditary neurodegenerative disease with an autosomal dominant type of inheritance and manifested by motor, behavioral and mental disorders.
Emilia E. Alieva, Polina A. Klishina, Bella O. Matsukatova, Alfiya I. Aminova   +3 more
doaj   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

Reduced cancer Incidence in Huntington's disease. analysis in the registry study [PDF]

, 2018
People with Huntington's disease (HD) have been observed to have lower rates of ...
McNulty, Paul, Jones, Lesley, Romano, Silvia, Ferraldeschi, Michela, Dumoulin, Christine, Ramesh, Raviram, Gillardin, Anne-Françoise, Constant, Eric, Holmans, Peter, Hughes, Alis, Léonard, Marie-Claude, REGISTRY Investigators of the European Huntington's Disease Network, Ristori, Giovanni, van de Wyngaerde, Françoise, Pilcher, Richard, Farewell, Daniel, Necuiniate, Renata   +16 more
core   +2 more sources

Generation of an induced pluripotent stem cell line from a Huntington’s disease patient with a long HTT-PolyQ sequence

Stem Cell Research, 2023
Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT).
Duncan C. Miller, Pawel Lisowski, Carolin Genehr, Erich E. Wanker, Josef Priller, Alessandro Prigione, Sebastian Diecke   +6 more
doaj   +1 more source

Longitudinal diffusion tensor imaging shows progressive changes in white matter in Huntington’s disease [PDF]

, 2015
This work has been supported by the European Union — PADDINGTON project and all authors, with the exception of RS, SG and HZ receive funding from this project.
Scahill, Rachael I, Zhang, Hui, Roos, Raymund AC, Cole, James H, Sprengelmeyer, R, Hobbs, NZ, Cole, JH, Frost, Chris, Gregory, Sarah, Farmer, Ruth E., Hobbs, Nicola Z., Roos, Raymond A. C., Scahill, Rachel I., Cole, James H., Durr, Alexandra, Landwehrmeyer, B, Sprengelmeyer, Reiner, Rees, Elin M., Roos, RA, Scahill, Rachael I., Rees, EM, Landwehrmeyer, Bernhard, Tabrizi, Sarah J, Frost, C, Scahill, RI, Hobbs, Nicola Z, Gregory, S, Farmer, RE, Roos, Raymund A.C., Cole, James H.; id_orcid, Sprengelmeyer, Reiner Heinrich, Durr, A, Tabrizi, SJ, Tabrizi, Sarah J., Farmer, Ruth E, Rees, Elin M, Duerr, Alexandra, Zhang, H   +37 more
core   +1 more source

Huntington's Disease

Pediatric Neurology Briefs, 1989
The positron-emission tomography (PET) findings in a seven year old girl with the juvenile form of Huntington's disease are described from the Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Montreal, Canada.
J Gordon Millichap
doaj   +1 more source

Subcortical T1-Rho MRI Abnormalities in Juvenile-Onset Huntington’s Disease

Brain Sciences, 2020
Huntington’s disease (HD) is a fatal neurodegenerative disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the huntingtin gene. An increased CAG repeat length is associated with an earlier disease onset.
Alexander V. Tereshchenko, Jordan L. Schultz, Ansley J. Kunnath, Joel E. Bruss, Eric A. Epping, Vincent A. Magnotta, Peg C. Nopoulos   +6 more
doaj   +1 more source

Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]

Journal of Movement Disorders, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh, Eun-Seon Park, Seong-Min Choi, Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho   +5 more
doaj   +1 more source

Juvenile Onset Huntington's Disease [PDF]

, 2021
The Special Issue “Juvenile Onset Huntington’s Disease” highlights the growing interest in understanding the unique aspects of this ultra-rare disorder.
openaire   +3 more sources