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Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, ISSN 0317-1671, 06/2016, Volume 43, Issue S2, pp. S49 - S49
Background: Menkes disease is a rare, X-linked recessive disorder of the ATP7A gene, a copper transporter; resulting in systemic copper deficiency. The... 
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/2016, Volume 89, Issue 3, pp. 275 - 284
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 713 - 730
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is... 
DISEASE GENES | CAENORHABDITIS-ELEGANS | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | OCULO-RENAL SYNDROME | ACTIN CYTOSKELETON | MUTATIONS | CENTROSOMAL PROTEIN | MECKEL-GRUBER-SYNDROME | BASAL BODY PROTEIN | Haplotypes | Humans | Child, Preschool | Infant | Male | Cerebellum - abnormalities | Wnt Proteins - metabolism | Zebrafish - embryology | Case-Control Studies | Gene Knockdown Techniques | Multiprotein Complexes - metabolism | Kidney Diseases, Cystic - genetics | Adult | Bardet-Biedl Syndrome - genetics | Female | Membrane Proteins - metabolism | Child | Infant, Newborn | Wnt Signaling Pathway | Cell Line | Microscopy, Electron, Transmission | Gene Expression | Genetic Association Studies | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Abnormalities, Multiple | Chromosome Mapping | Eye Abnormalities - genetics | Gene Knockout Techniques | Sequence Analysis, DNA | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Caenorhabditis elegans - ultrastructure | Animals | Cerebellar Diseases - genetics | Retina - abnormalities | Mice | Polymorphism, Single Nucleotide | Mutation | Chromosome mapping | Usage | Gene mutations | Cilia and ciliary motion | Joubert syndrome | Physiological aspects | Causes of | Genetic aspects | Research | Nucleotide sequencing | Methods | DNA sequencing | Brain | Gastrulation | Wnt protein | Congenital defects | Etiology | Mapping | Neurodevelopmental disorders | Cilia
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 490 - 501
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 3/2013, Volume 28, Issue 3, pp. 389 - 391
Mutations in the SCN1A gene are associated with a variety of epilepsy syndromes and more recently with familial hemiplegic migraine. The spectrum of phenotypes... 
phenotypic heterogeneity | intractable epilepsy | SCN1A mutation | Dravet syndrome | PEDIATRICS | SPECTRUM | CLINICAL NEUROLOGY | Phenotype | Migraine Disorders - genetics | Child Development Disorders, Pervasive - genetics | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Child, Preschool | Female | Epilepsies, Myoclonic - genetics | Autism
Journal Article
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, ISSN 0305-1846, 12/2014, Volume 40, Issue 7, pp. 946 - 950
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2005, Volume 128, Issue 4, pp. 711 - 722
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2006, Volume 281, Issue 35, pp. 25850 - 25866
Protein inhibitors of activated STATs (PIAS) family members are ubiquitin-protein isopeptide ligase-small ubiquitin-like modifier ligases for diverse... 
RET FINGER PROTEIN | SKELETAL-MUSCLE | FAMILY-MEMBER | DNA MICROARRAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | NUCLEAR EXPORT SIGNALS | GENE-ACTIVATION | RING FINGER | STAGE PROGRESSION | SUMO-1 MODIFICATION | UBIQUITIN LIGASES
Journal Article
Journal Article
by Wheway, Gabrielle and Schmidts, Miriam and Mans, Dorus A and Szymanska, Katarzyna and Nguyen, Thanh-Minh T and Racher, Hilary and Phelps, Ian G and Toedt, Grischa and Kennedy, Julie and Wunderlich, Kirsten A and Sorusch, Nasrin and Abdelhamed, Zakia A and Natarajan, Subaashini and Herridge, Warren and van Reeuwijk, Jeroen and Horn, Nicola and Boldt, Karsten and Parry, David A and Letteboer, Stef J F and Roosing, Susanne and Adams, Matthew and Bell, Sana M and Bond, Jacquelyn and Higgins, Julie and Morrison, Ewan E and Tomlinson, Darren C and Slaats, Gisela G and van Dam, Teunis J P and Huang, Lijia and Kessler, Kristin and Giessl, Aneas and Logan, Clare V and Boyle, Evan A and Shendure, Jay and Anazi, Shamsa and Aldahmesh, Mohammed and Al Hazzaa, Selwa and Hegele, Robert A and Ober, Carole and Frosk, Patrick and Mhanni, Aizeddin A and Chodirker, Bernard N and Chudley, Albert E and Lamont, Ryan and Bernier, Francois P and Beaulieu, Chanee L and Gordon, Paul and Pon, Richard T and Donahue, Clem and Barkovich, A James and Wolf, Louis and Toomes, Carmel and Thiel, Christian T and Boycott, Kym M and McKibbin, Martin and Inglehearn, Chris F and Stewart, Fiona and Omran, Heymut and Huynen, Martijn A and Sergouniotis, Panagiotis I and Alkuraya, Fowzan S and Parboosingh, Jillian S and Innes, A Micheil and Willoughby, Colin E and Giles, Rachel H and Webster, Anew R and Ueffing, Marius and Blacque, Oliver and Gleeson, Joseph G and Wolfrum, Uwe and Beales, Philip L and Gibson, Toby and Doherty, Dan and Mitchison, Hannah M and Roepman, Ronald and Johnson, Colin A
Nature Cell Biology, ISSN 1465-7392, 08/2015, Volume 17, Issue 8, p. 1074
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
Journal Article