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Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data.
Tabrizi SJ, Langbehn DR, Leavitt BR, Roos RA, Durr A, Craufurd D, Kennard C, Hicks SL, Fox NC, Scahill RI, Borowsky B, Tobin AJ, Rosas HD, Johnson H, Reilmann R, Landwehrmeyer B, Stout JC; TRACK-HD investigators. Tabrizi SJ, et al. Lancet Neurol. 2009 Sep;8(9):791-801. doi: 10.1016/S1474-4422(09)70170-X. Epub 2009 Jul 29. Lancet Neurol. 2009. PMID: 19646924 Free PMC article. Clinical Trial.
Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis.
Tabrizi SJ, Scahill RI, Durr A, Roos RA, Leavitt BR, Jones R, Landwehrmeyer GB, Fox NC, Johnson H, Hicks SL, Kennard C, Craufurd D, Frost C, Langbehn DR, Reilmann R, Stout JC; TRACK-HD Investigators. Tabrizi SJ, et al. Lancet Neurol. 2011 Jan;10(1):31-42. doi: 10.1016/S1474-4422(10)70276-3. Epub 2010 Dec 2. Lancet Neurol. 2011. PMID: 21130037
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Dürr A, Singleton A, Brice A. Marelli C, et al. Arch Neurol. 2011 May;68(5):637-43. doi: 10.1001/archneurol.2011.81. Arch Neurol. 2011. PMID: 21555639 Free PMC article.
Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy.
Scahill RI, Hobbs NZ, Say MJ, Bechtel N, Henley SM, Hyare H, Langbehn DR, Jones R, Leavitt BR, Roos RA, Durr A, Johnson H, Lehéricy S, Craufurd D, Kennard C, Hicks SL, Stout JC, Reilmann R, Tabrizi SJ; TRACK-HD investigators. Scahill RI, et al. Hum Brain Mapp. 2013 Mar;34(3):519-29. doi: 10.1002/hbm.21449. Epub 2011 Nov 18. Hum Brain Mapp. 2013. PMID: 22102212 Free PMC article.
Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data.
Tabrizi SJ, Reilmann R, Roos RA, Durr A, Leavitt B, Owen G, Jones R, Johnson H, Craufurd D, Hicks SL, Kennard C, Landwehrmeyer B, Stout JC, Borowsky B, Scahill RI, Frost C, Langbehn DR; TRACK-HD investigators. Tabrizi SJ, et al. Lancet Neurol. 2012 Jan;11(1):42-53. doi: 10.1016/S1474-4422(11)70263-0. Epub 2011 Dec 2. Lancet Neurol. 2012. PMID: 22137354
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G. Klebe S, et al. Among authors: marelli c. Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258533 Free PMC article.
Exonic deletions of FXN and early-onset Friedreich ataxia.
Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M. Anheim M, et al. Among authors: marelli c. Arch Neurol. 2012 Jul;69(7):912-6. doi: 10.1001/archneurol.2011.834. Arch Neurol. 2012. PMID: 22409940
Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data.
Tabrizi SJ, Scahill RI, Owen G, Durr A, Leavitt BR, Roos RA, Borowsky B, Landwehrmeyer B, Frost C, Johnson H, Craufurd D, Reilmann R, Stout JC, Langbehn DR; TRACK-HD Investigators. Tabrizi SJ, et al. Lancet Neurol. 2013 Jul;12(7):637-49. doi: 10.1016/S1474-4422(13)70088-7. Epub 2013 May 9. Lancet Neurol. 2013. PMID: 23664844
218 results