0964-5691 < 0964-6906 < 0965-1721

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 28.
[0-20] [0 - 20][0 - 28][20-27][20-40]

Ident.	Authors (with country if any)	Title
000A44 (2007)	Tim De Meyer ; Ernst R. Rietzschel ; Marc L. De Buyzere ; Dirk De Bacquer ; Wim Van Criekinge ; Guy G. De Backer ; Thierry C. Gillebert ; Patrick Van Oostveldt ; Sofie Bekaert	Paternal age at birth is an important determinant of offspring telomere length
000E40 (2010)	Hazel Urwin ; Astrid Authier ; Jorgen E. Nielsen ; Daniel Metcalf ; Caroline Powell ; Kristina Froud ; Denise S. Malcolm ; Ida Holm ; Peter Johannsen ; Jeremy Brown ; Elizabeth M. C. Fisher ; Julie Van Der Zee ; Marc Bruyland ; Christine Van Broeckhoven ; John Collinge ; Sebastian Brandner ; Clare Futter ; Adrian M. Isaacs	Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
000E55 (2009)	Claire L. Simpson ; Robin Lemmens ; Katarzyna Miskiewicz ; Wendy J. Broom ; Valerie K. Hansen ; Paul W. J. Van Vught ; John E. Landers ; Peter Sapp ; Ludo Van Den Bosch ; Joanne Knight ; Benjamin M. Neale ; Martin R. Turner ; Jan H. Veldink ; Roel A. Ophoff ; Vineeta B. Tripathi ; Ana Beleza ; Meera N. Shah ; Petroula Proitsi ; Annelies Van Hoecke ; Peter Carmeliet ; H. Robert Horvitz ; P. Nigel Leigh ; Christopher E. Shaw ; Leonard H. Van Den Berg ; Pak C. Sham ; John F. Powell ; Patrik Verstreken ; Robert H. Brown ; Wim Robberecht ; Ammar Al-Chalabi	Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
000E56 (2008)	Laura A. Lettice ; Alison E. Hill ; Paul S. Devenney ; Robert E. Hill	Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly
000E77 (2009)	Giovanni Coppola ; Daniele Marmolino ; Daning Lu ; Qing Wang ; Miriam Cnop ; Myriam Rai ; Fabio Acquaviva ; Sergio Cocozza ; Massimo Pandolfo ; Daniel H. Geschwind	Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR pathway as a therapeutic target in Friedreichs ataxia
001223 (2010)	Simon P. Brooks ; Margherita Coccia ; Hao R. Tang ; Naheed Kanuga ; Laura M. Machesky ; Maryse Bailly ; Michael E. Cheetham ; Alison J. Hardcastle	The NanceHoran syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology
001224 (2010)	Mathilde Faideau ; Jinho Kim ; Kerry Cormier ; Richard Gilmore ; Mackenzie Welch ; Gwennaelle Auregan ; Noelle Dufour ; Martine Guillermier ; Emmanuel Brouillet ; Philippe Hantraye ; Nicole Dglon ; Robert J. Ferrante ; Gilles Bonvento	In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington's disease subjects
001225 (2009)	Carla Oliveira ; Janine Senz ; Pardeep Kaurah ; Hugo Pinheiro ; Remo Sanges ; Anne Haegert ; Giovanni Corso ; Jan Schouten ; Rebecca Fitzgerald ; Holger Vogelsang ; Gisela Keller ; Sarah Dwerryhouse ; Donna Grimmer ; Suet-Feung Chin ; Han-Kwang Yang ; Charles E. Jackson ; Raquel Seruca ; Franco Roviello ; Elia Stupka ; Carlos Caldas ; David Huntsman	Germline CDH1 deletions in hereditary diffuse gastric cancer families
001226 (2010)	Joy Irobi ; Leonardo Almeida-Souza ; Bob Asselbergh ; Vicky De Winter ; Sofie Goethals ; Ines Dierick ; Jyothsna Krishnan ; Jean-Pierre Timmermans ; Wim Robberecht ; Peter De Jonghe ; Ludo Van Den Bosch ; Sophie Janssens ; Vincent Timmerman	Mutant HSPB8 causes motor neuron-specific neurite degeneration
001227 (2009)	Maria I. Ferrante ; Leila Romio ; Silvia Castro ; John E. Collins ; David A. Goulding ; Derek L. Stemple ; Adrian S. Woolf ; Stephen W. Wilson	Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
001253 (2007)	Robert Goold ; Michael Hubank ; Abigail Hunt ; Janice Holton ; Rajesh P. Menon ; Tamas Revesz ; Massimo Pandolfo ; Antoni Matilla-Dueas	Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1
001254 (2010)	Karolien Bettens ; Kristel Sleegers ; Christine Van Broeckhoven	Current status on Alzheimer disease molecular genetics: from past, to present, to future
001255 (2010)	Maikel L. Colli ; Fabrice Moore ; Esteban N. Gurzov ; Fernanda Ortis ; Decio L. Eizirik	MDA5 and PTPN2, two candidate genes for type 1 diabetes, modify pancreatic -cell responses to the viral by-product double-stranded RNA
001299 (2010)	Fiona M. Menzies ; Raphael Hourez ; Sara Imarisio ; Marcel Raspe ; Oana Sadiq ; Dhia Chandraratna ; Cahir O'Kane ; Kenneth L. Rock ; Eric Reits ; Alfred L. Goldberg ; David C. Rubinsztein	Puromycin-sensitive aminopeptidase protects against aggregation-prone proteins via autophagy
001300 (2009)	Jan Hauke ; Markus Riessland ; Sebastian Lunke ; Ilker Y. Eypoglu ; Ingmar Blmcke ; Assam El-Osta ; Brunhilde Wirth ; Eric Hahnen	Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
001301 (2006)	Gary Temple ; Philippe Lamesch ; Stuart Milstein ; David E. Hill ; Lukas Wagner ; Troy Moore ; Marc Vidal	From genome to proteome: developing expression clone resources for the human genome
001312 (2010)	Natalie J. Prescott ; Katherine M. Dominy ; Michiaki Kubo ; Cathryn M. Lewis ; Sheila A. Fisher ; Richard Redon ; Ni Huang ; Barbara E. Stranger ; Katarzyna Blaszczyk ; Barry Hudspith ; Gareth Parkes ; Naoya Hosono ; Keiko Yamazaki ; Clive M. Onnie ; Alastair Forbes ; Emmanouil T. Dermitzakis ; Yusuke Nakamura ; John C. Mansfield ; Jeremy Sanderson ; Matthew E. Hurles ; Roland G. Roberts ; Christopher G. Mathew	Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease
001319 (2009)	Ellen Reynders ; Franois Foulquier ; Elisa Leo Teles ; Dulce Quelhas ; Willy Morelle ; Cathrine Rabouille ; Wim Annaert ; Gert Matthijs	Golgi function and dysfunction in the first COG4-deficient CDG type II patient
001320 (2006)	Anne Tarrade ; Coralie Fassier ; Sabrina Courageot ; Delphine Charvin ; Jrmie Vitte ; Leticia Peris ; Alain Thorel ; Etienne Mouisel ; Nuria Fonknechten ; Natacha Roblot ; Danielle Seilhean ; Andre Dirich ; Jean Jacques Hauw ; Judith Melki	A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
001321 (2007)	Vanessa Besson ; Vronique Brault ; Arnaud Duchon ; Dieudonn Togbe ; Jean-Charles Bizot ; Valrie F. J. Quesniaux ; Bernard Ryffel ; Yann Hrault	Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses
001322 (2009)	Susan E. Swanberg ; Raman P. Nagarajan ; Sailaja Peddada ; Dag H. Yasui ; Janine M. Lasalle	Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism

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