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Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2019, Volume 28, Issue 4, pp. 584 - 597
Journal Article
Nature Structural and Molecular Biology, ISSN 1545-9993, 11/2016, Volume 23, Issue 11, pp. 965 - 973
Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved. We solved the crystal... 
2 SIBLINGS | ACTIVATING PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEURODEGENERATION | DROSOPHILA | PHOSPHOINOSITIDES | CELL BIOLOGY | HEARING-LOSS | BIOPHYSICS | HOMOZYGOUS TBC1D24 MUTATION | DOORS SYNDROME | DOMAINS | RAB GTPASES | Synaptic Vesicles - metabolism | Humans | Crystallography, X-Ray | Epilepsy - metabolism | rab GTP-Binding Proteins - genetics | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Drosophila melanogaster - metabolism | Hand Deformities, Congenital - metabolism | Synaptic Vesicles - chemistry | Protein Domains | Epilepsy - genetics | Phosphatidylinositols - metabolism | Carrier Proteins - analysis | Diffusion | Binding Sites | Craniofacial Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Synaptic Vesicles - genetics | rab GTP-Binding Proteins - metabolism | Phosphoric Monoester Hydrolases - genetics | Hearing Loss, Sensorineural - metabolism | Nails, Malformed - metabolism | Synaptic Vesicles - ultrastructure | rab GTP-Binding Proteins - analysis | Models, Molecular | Hearing Loss, Sensorineural - genetics | Drosophila Proteins - analysis | Nerve Tissue Proteins - genetics | Nails, Malformed - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Drosophila melanogaster - chemistry | Protein Conformation | Drosophila Proteins - genetics | Mutation | Phosphoric Monoester Hydrolases - metabolism | Mental disorders | Neurons | Epilepsy | Index Medicus
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 03/2017, Volume 13, Issue 3, pp. e1006683 - e1006683
textabstractSchinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and... 
ASXL1 | TRANSFORMATION | RECURRENT | ABNORMALITIES | DISTINCT | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | CANCER-RISK | CSF3R T618I | MYELODYSPLASTIC SYNDROME | CHRONIC MYELOID-LEUKEMIA | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Humans | Child, Preschool | Infant | Male | Gene Expression Profiling | Hematologic Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Intellectual Disability - metabolism | Cell Transformation, Neoplastic - genetics | HEK293 Cells | Hand Deformities, Congenital - metabolism | Germ-Line Mutation | Craniofacial Abnormalities - pathology | Female | Nuclear Proteins - genetics | Child | Craniofacial Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hematologic Neoplasms - metabolism | Infant, Newborn | Cell Line | Cell Proliferation - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Nails, Malformed - metabolism | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Blotting, Western | Nails, Malformed - genetics | Carrier Proteins - genetics | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Hematologic Neoplasms - genetics | Mutation | Hand Deformities, Congenital - pathology | Cell proliferation | Genetic aspects | Research | Gene mutations | Schinzel-Giedion syndrome | Leukemia | Health sciences | Pediatrics | Neurosciences | Laboratories | Hot spots | Genomics | Genomes | Malignancy | Clustering | Patients | Incidence | Children & youth | Medicine | Pathology | Hospitals | Language | Genetics | Life sciences | In vitro methods and tests | Cancer | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2015, Volume 97, Issue 4, pp. 535 - 545
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2014, Volume 207, Issue 4, pp. 453 - 462
Synaptic demise and accumulation of dysfunctional proteins are thought of as common features in neurodegeneration. However, the mechanisms by which synaptic... 
ENDOSOMES | GENE | NEUROTRANSMITTER RELEASE | DROSOPHILA-MELANOGASTER | COLOR | TRAFFICKING | DEEP-ORANGE | GENOME | CELL BIOLOGY | Synaptic Vesicles - metabolism | Synaptic Transmission - physiology | Membrane Glycoproteins - metabolism | rab5 GTP-Binding Proteins - biosynthesis | Neuromuscular Junction - metabolism | Humans | rab GTP-Binding Proteins - genetics | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Endosomes - metabolism | Drosophila Proteins - biosynthesis | Intellectual Disability - genetics | DNA-Binding Proteins - metabolism | Drosophila melanogaster - metabolism | Lysosomes - metabolism | Proteolysis | Craniofacial Abnormalities - genetics | rab GTP-Binding Proteins - metabolism | R-SNARE Proteins - genetics | Neurodegenerative Diseases - genetics | Hearing Loss, Sensorineural - genetics | Neurodegenerative Diseases - metabolism | DNA-Binding Proteins - genetics | Nails, Malformed - genetics | Protein Transport | Carrier Proteins - genetics | Pyridinium Compounds - pharmacology | Animals | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | R-SNARE Proteins - biosynthesis | Drosophila Proteins - genetics | Mutation | Quaternary Ammonium Compounds - pharmacology | Nervous system | Degeneration | Genetic aspects | Research | Gene mutations | Proteins | Neurotransmitters | Insects | Neurodegeneration | Epilepsy | Medical screening | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2014, Volume 47, Issue 1, pp. 73 - 77
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 6/2015, Volume 30, Issue 7, pp. 932 - 936
Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth... 
epilepsy | adrenocorticotropic hormone (ACTH) | SET binding protein 1 (SETBP1) | PEDIATRICS | SETBP1 MUTATIONS | CLINICAL NEUROLOGY | FEATURES | Abnormalities, Multiple - pathology | Humans | Hormones - therapeutic use | Infant | Intellectual Disability - complications | Abnormalities, Multiple - drug therapy | Electroencephalography | Spasms, Infantile - genetics | Nails, Malformed - pathology | Intellectual Disability - genetics | DNA Mutational Analysis | Craniofacial Abnormalities - pathology | Female | Spasms, Infantile - complications | Nuclear Proteins - genetics | Nails, Malformed - complications | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Diagnosis, Differential | Hand Deformities, Congenital - complications | Adrenocorticotropic Hormone - therapeutic use | Brain - physiopathology | Intellectual Disability - pathology | Craniofacial Abnormalities - drug therapy | Nails, Malformed - drug therapy | Nails, Malformed - genetics | Hand Deformities, Congenital - drug therapy | Intellectual Disability - drug therapy | Spasms, Infantile - pathology | Carrier Proteins - genetics | Spasms, Infantile - drug therapy | Hand Deformities, Congenital - genetics | Brain - pathology | Mutation | Hand Deformities, Congenital - pathology | Index Medicus
Journal Article
Clinical and Experimental Dermatology, ISSN 0307-6938, 04/2017, Volume 42, Issue 3, pp. 313 - 315
The Wnt signalling pathway is a major pathway involved in the embryogenic development of the various organs of the body. Appropriate signalling in this pathway... 
WNT | R-SPONDIN-4 | DERMATOLOGY | Thrombospondins - genetics | Humans | Adult | Male | Codon, Nonsense | Nails, Malformed - congenital | Nails, Malformed - genetics | Proteins | Genetic research | Embryonic development | Genetic aspects | Mutation | Index Medicus
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 10/2013, Volume 169, Issue 4, pp. 946 - 948
Journal Article