Inventaire - teman dan komunitas anda adalah perpustakaan terbaik - Inventaire

Cites articles 40

Date

Judul

Pengarang

2013-06-13

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

Kwanghyuk Lee, Sulman Basit, Wasim Ahmad, Deborah A Nickerson, Suzanne M. Leal
2013-05-01

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Monica Juneja, Cas Simons, Adeline Vanderver, Joanna Crawford, Paul J. Lockhart, Nicole I Wolf, Sean Grimmond, David K Miller, Petra Pouwels, Truus E M Abbink
2013-03-28

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

Mary-Claire King, Tom Walsh, Ephrat Levy-Lahad, Rachel Michaelson-Cohen
2013-02-21

Aminoacyl-tRNA synthetases in medicine and disease
2012-03-16

A developmental and genetic classification for malformations of cortical development: update 2012

William B. Dobyns, Renzo Guerrini
2012-04

Structural conservation of an ancient tRNA sensor in eukaryotic glutaminyl-tRNA synthetase

Thomas D. Grant, Edward H Snell, Elizabeth J. Grayhack
2012

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

Bernard Brais, Jean-Pierre Bouchard, Vafa Bayat, Manish Jaiswal, Brett H Graham, Hugo J. Bellen, Jean Mathieu, Geneviève Bernard, Michel Vanasse
2012-10-21

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Jean-Laurent Casanova, Arnold Munnich, Nathalie Boddaert, Patrick Nitschké, Giulia Barcia, Anna Kaminska, Laurence Colleaux, Maéva Langouët, Isabelle Desguerre, Avinash Abhyankar, Olivier Dulac, Rima Nabbout
2012-07-02

Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal

Holger Brandl, Martin Kircher, Johannes Vogt, Ian Henry, Svante Pääbo, Wieland B Huttner, Wolfgang Enard
2012-05-08

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Vittoria Petruzzella, Fiorella Piemonte, Enrico Bertini, Giulia Tozzi, Fabiana Fattori, Claudia Nesti, Luigi Bisceglia, Rosalba Carrozzo, Adele D'Amico, Carlo Dionisi-Vici, Filippo Maria Santorelli, Mara Doimo, Alessandra Tessa, Teresa Rizza, Marzia Bianchi, Maria Chiara Meschini
2011-07-12

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

Frank Baas
2011-04-19

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

Tom Walsh, Mary-Claire King, Karen M Chisholm, John Marius Opitz
2011-05-31

Cdk5rap2 exposes the centrosomal root of microcephaly syndromes

Timothy Megraw, Richard S. Nowakowski
2010-11

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

David J. Tischfield, Timothy W Yu, Consolato Sergi, William B. Dobyns, Ganeshwaran H Mochida, Christopher A. Walsh, Brenda Barry, Jillian M Felie, Christine M Sunu, Rebecca D Folkerth, Anthony James Barkovich
2010-07-09

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

Richard Giegé, Joëlle Rudinger-Thirion, Sze Chern Lim, Peter Hickey, Alison Compton, Michael T Ryan, Matthew McKenzie, John Christodoulou, David Thorburn, Sandra T Cooper, Lisa G Riley
2010-10-14

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

William B. Dobyns, Ophry Pines, Aviva Mimouni Bloch, Simon Edvardson, Aviva Fattal-Valevski
2010-10-01

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Jeffery M. Vance, Davut Pehlivan, Charles C Searby, Ya-Ming Hou, Kevin Talbot, NISC Comparative Sequencing Program, Leslie G Biesecker, Eric D. Green, Anthony Antonellis, James C Mullikin, Stephan Züchner, James R. Lupski
2010-10-01

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy

Esther Leshinsky-Silver, Tally Lerman-Sagie, Dorit Lev
2009-09-09

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

Takayuki Katoh
2009-12-31

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

Laurence Faivre, Christel Thauvin-Robinet
2009-01-01

Aminoacyl-tRNA synthesis and translational quality control

Jiqiang Ling
2009-03-16

Dynamic Organization of Aminoacyl-tRNA Synthetase Complexes in the Cytoplasm of Human Cells

Boris Negrutskii
2009-01-08

Dissection of the structural organization of the aminoacyl-tRNA synthetase complex

Boris Negrutskii
2008-01-01

The role of aminoacyl-tRNA synthetases in genetic diseases

Eric D. Green, Anthony Antonellis
2008-09-01

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Frank Baas, Gudrun Nürnberg, Ingeborg Krägeloh-Mann, Lina Basel-Vanagaite, Fred van Ruissen, Kees Fluiter, Yanick J. Crow, Eugenio Grillo, Roberta Battini, Peter Nürnberg, Eugen Boltshauser, Eleonora Aronica, Bernd Wollnik, Christian Becker, Raoul Hennekam, Marian A J Weterman, Yasmin Namavar, Bwee Tien Poll-The, Knut Brockmann
2007-09-01

Microcephaly syndromes
2007-08-24

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

Ivan Tarassov, Simon Edvardson, Ann Saada
2007-05-27

Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization
2006-02

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Els De Vriendt, Albena Jordanova, Velina Guergueltcheva, Peter De Jonghe, Wim Robberecht, Vincent Timmerman, An Jacobs, Veerle Van Gerwen, Joy Irobi, Ines Dierick, Ludo Van Den Bosch, Jan Gettemans, Kris Meerschaert, Johan M. Thevelein, Patrick Callaerts
2005-05

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

C Geoffrey Woods, Wolfgang Enard
2005-04-20

tRNA-dependent aminoacyl-adenylate hydrolysis by a nonediting class I aminoacyl-tRNA synthetase
2004-07-15

Identification of 315 genes essential for early zebrafish development

Robert M. Nissen, Eric C. Swindell, Nancy Hopkins

Artikel - wd:Q24339517

Selamat datang di Inventaire

perpustakaan teman-teman dan komunitas anda

pelajari lebih lanjut

anda sedang luring