Search Results

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Authors: Holt, Ian; Mittal, Saloni; Furling, Denis; Butler-Browne, Gillian S; David Brook, J.; Morris, Glenn E.

Source: Genes to Cells, Volume 12, Number 9, September 2007 , pp. 1035-1048(14)

Publisher: Blackwell Publishing

Hydrogel-Based Protein Nanoarrays

Authors: Saaem, I.; Papasotiropoulos, V.; Wang, T.; Soteropoulos, P.; Libera, M.

Source: Journal of Nanoscience and Nanotechnology, Volume 7, Number 8, August 2007 , pp. 2623-2632(10)

Publisher: American Scientific Publishers

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Authors: Machuca-Tzili, Laura; Thorpe, Helena; Robinson, Thelma; Sewry, Caroline; Brook, J.

Source: Human Genetics, Volume 120, Number 4, November 2006 , pp. 487-499(13)

Publisher: Springer

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression

Authors: Margolis, Jamie M.; Schoser, Benedikt G.; Moseley, Melinda L.; Day, John W.; Ranum, Laura P.W.

Source: Human Molecular Genetics, Volume 15, Number 11, 1 June 2006 , pp. 1808-1815(8)

Publisher: Oxford University Press

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

Authors: Jakubiczka, Sibylle; Vielhaber, Stefan; Kress, Wolfram; Küpferling, Peter; Reuner, Ulrike; Kunath, Bernhard; Wieacker, Peter

Source: Neurogenetics, Volume 5, Number 1, February 2004 , pp. 55-59(5)

Publisher: Springer

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

Authors: Isabelle Le Ber; Maria Martinez; Dominique Campion; Annie Laquerrière; Christine Bétard; Guillaume Bassez; Carol Girard; Pascale Saugier-Veber; Gregory Raux; Nicolas Sergeant; Patrick Magnier; Thierry Maisonobe; Bruno Eymard; Charles Duyckaerts; André Delacourte; Thierry Frebourg; Didier Hannequin

Source: Brain, Volume 127, Number 9, September 2004 , pp. 1979-1992(14)

Publisher: Oxford University Press

Homozygosity for CCTG mutation in myotonic dystrophy type 2

Authors: Benedikt G. H. Schoser; Wolfram Kress; Maggie C. Walter; Birgit Halliger-Keller; Hanns Lochmüller; Kenneth Ricker

Source: Brain, Volume 127, Number 8, 21 August 2004 , pp. 1868-1877(10)

Publisher: Oxford University Press

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

Authors: Kino Y.; Mori D.; Oma Y.; Takeshita Y.; Sasagawa N.; Ishiura S.

Source: Human Molecular Genetics, Volume 13, Number 5, 1 March 2004 , pp. 495-507(13)

Publisher: Oxford University Press

PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

Source: Clinical Genetics, Volume 63, Number 1, January 2003 , pp. 73-75(3)

Publisher: Blackwell Publishing

Myotonic dystrophy type 2

Author: Finsterer J.

Source: European Journal of Neurology, Volume 9, Number 5, September 2002 , pp. 441-447(7)

Publisher: Blackwell Publishing

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

Authors: Rogers M.T.; Hamshere M.G.; Harper P.S.; Fardaei M.; Thorpe H.M.; Larkin K.; Brook J.D.

Source: Human Molecular Genetics, Volume 11, Number 7, 1 April 2002 , pp. 805-814(10)

Publisher: Oxford University Press