Literature DB >> 22729385

Molecular evaluation of human ubiquilin 2 gene PXX domain in familial frontotemporal dementia patients.

Isabel Hernández, Anna Espinosa, Luis Miguel Real, Jose Jorge Galán, Ana Mauleón, Maiteé Rosende Roca, Lluís Tárraga, Agustín Ruiz, Mercè Boada.   

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Year:  2012        PMID: 22729385     DOI: 10.1007/s00415-012-6568-5

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


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  17 in total

1.  The human genome browser at UCSC.

Authors:  W James Kent; Charles W Sugnet; Terrence S Furey; Krishna M Roskin; Tom H Pringle; Alan M Zahler; David Haussler
Journal:  Genome Res       Date:  2002-06       Impact factor: 9.043

2.  Familial amyotrophic lateral sclerosis with dementia: a second canadian family.

Authors:  L Pinsky; M H Finlayson; I Libman; B H Scott
Journal:  Clin Genet       Date:  1975-03       Impact factor: 4.438

3.  Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.

Authors:  Stéphanie Millecamps; Philippe Corcia; Cécile Cazeneuve; Séverine Boillée; Danielle Seilhean; Véronique Danel-Brunaud; Nadia Vandenberghe; Pierre-François Pradat; Nadine Le Forestier; Lucette Lacomblez; Gaëlle Bruneteau; William Camu; Alexis Brice; Vincent Meininger; Eric LeGuern; François Salachas
Journal:  Neurobiol Aging       Date:  2011-12-09       Impact factor: 4.673

4.  Progressive bulbar paralysis showing heredofamilial incidence and intellectual impairment.

Authors:  E E ROBERTSON
Journal:  AMA Arch Neurol Psychiatry       Date:  1953-02

5.  SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis.

Authors:  Faisal Fecto; Teepu Siddique
Journal:  Ann Neurol       Date:  2011-12       Impact factor: 10.422

6.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors:  Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

7.  Identification of sequence motifs causing band compressions on human cDNA sequencing.

Authors:  H Yamakawa; D Nakajima; O Ohara
Journal:  DNA Res       Date:  1996-04-30       Impact factor: 4.458

8.  A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors:  Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

9.  Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.

Authors:  Han-Xiang Deng; Wenjie Chen; Seong-Tshool Hong; Kym M Boycott; George H Gorrie; Nailah Siddique; Yi Yang; Faisal Fecto; Yong Shi; Hong Zhai; Hujun Jiang; Makito Hirano; Evadnie Rampersaud; Gerard H Jansen; Sandra Donkervoort; Eileen H Bigio; Benjamin R Brooks; Kaouther Ajroud; Robert L Sufit; Jonathan L Haines; Enrico Mugnaini; Margaret A Pericak-Vance; Teepu Siddique
Journal:  Nature       Date:  2011-08-21       Impact factor: 49.962

10.  Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome.

Authors:  Lihong Zhao; Christine Rosales; Kevin Seburn; David Ron; Susan L Ackerman
Journal:  Hum Mol Genet       Date:  2010-01-01       Impact factor: 6.150

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  1 in total

Review 1.  Protein aggregation in amyotrophic lateral sclerosis.

Authors:  Anna M Blokhuis; Ewout J N Groen; Max Koppers; Leonard H van den Berg; R Jeroen Pasterkamp
Journal:  Acta Neuropathol       Date:  2013-05-15       Impact factor: 17.088

  1 in total

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