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Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 7, pp. 1148 - 1151
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 369 - 377
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2018, Volume 115, Issue 28, pp. E6640 - E6649
Endosomes have emerged as a central hub and pathogenic driver of Alzheimer's disease (AD). The earliest brain cytopathology in neurodegeneration, occurring... 
Histone deacetylase | Trichostatin A | Amyloid beta | ApoE4 | exchanger | Na+/H+ exchanger | CHRISTIANSON SYNDROME | HUMAN BRAIN | trichostatin A | MULTIDISCIPLINARY SCIENCES | SPORADIC ALZHEIMERS-DISEASE | histone deacetylase | SYNAPTIC PLASTICITY | amyloid beta | APOLIPOPROTEIN-E | LYSOSOMAL DYSFUNCTION | DOWN-SYNDROME | A-BETA | GENE-EXPRESSION | PRECURSOR PROTEIN | Microcephaly - genetics | Epigenesis, Genetic | Humans | Astrocytes - pathology | Epilepsy - metabolism | Endosomes - metabolism | Alzheimer Disease - pathology | Intellectual Disability - metabolism | Amyloid beta-Peptides - genetics | Amyloid beta-Peptides - metabolism | Ataxia - drug therapy | Genetic Diseases, X-Linked - genetics | Ataxia - genetics | Ataxia - metabolism | Microcephaly - drug therapy | Ataxia - pathology | Ocular Motility Disorders - pathology | Tumor Suppressor Proteins - metabolism | Apolipoprotein E4 - metabolism | Endosomes - genetics | Histone Deacetylases - genetics | Ocular Motility Disorders - metabolism | Intellectual Disability - pathology | Alzheimer Disease - drug therapy | Receptors, LDL - metabolism | Mice, Knockout | Genetic Diseases, X-Linked - pathology | Epilepsy - drug therapy | Histone Deacetylase Inhibitors - pharmacology | Mice | Astrocytes - metabolism | Hydrogen-Ion Concentration | Apolipoprotein E4 - genetics | Ocular Motility Disorders - genetics | Intellectual Disability - genetics | Sodium-Hydrogen Exchangers - metabolism | Genetic Diseases, X-Linked - drug therapy | Microcephaly - pathology | Tumor Suppressor Proteins - genetics | Epilepsy - genetics | Sodium-Hydrogen Exchangers - genetics | Receptors, LDL - genetics | Microcephaly - metabolism | Histone Deacetylases - metabolism | Endosomes - pathology | Genetic Diseases, X-Linked - metabolism | Intellectual Disability - drug therapy | Ocular Motility Disorders - drug therapy | Animals | Alzheimer Disease - metabolism | Alzheimer Disease - genetics | Epilepsy - pathology | Physiological aspects | Epigenetic inheritance | Glycoproteins | Genetic aspects | Observations | Astrocytes | Protons | Brain | Membranes | Transcription | Gene regulation | Trafficking | Cognitive ability | Acidification | pH effects | Neuronal-glial interactions | Risk factors | Proteins | Apolipoprotein E | Neurodegeneration | Compartments | Down-regulation | Alzheimer's disease | Plaques | Translocation | Pathogens | Apolipoprotein E4 | Therapeutic applications | Na+/H+-exchanging ATPase | Risk analysis | Apolipoproteins | Nuclear transport | Alleles | Epigenetics | Cytopathology | Receptor density | Mutation | Alzheimers disease | Endosomes | Index Medicus | Biological Sciences | PNAS Plus | H+ exchanger | Na+
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 253 - 274
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an... 
MICRODELETION | AUTISM | DE-NOVO MUTATIONS | GENES | COMPLEXES | GENETICS & HEREDITY | AXON GUIDANCE | PROJECTION NEURONS | PATIENT | 2P15P16.1 | DELETION | Microcephaly - genetics | Transcription Factors - chemistry | Humans | Transcriptome | Chromatin Assembly and Disassembly - genetics | Male | Neurodevelopmental Disorders - genetics | Cerebral Cortex - metabolism | Mutation, Missense - genetics | Intellectual Disability - genetics | Social Behavior | Carrier Proteins - chemistry | Transcription, Genetic | Nuclear Proteins - genetics | Frameshift Mutation - genetics | Haploinsufficiency - genetics | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Cognition Disorders - genetics | Neurodevelopmental Disorders - physiopathology | Transcription Factors - genetics | Nuclear Proteins - chemistry | Neurodevelopmental Disorders - pathology | Syndrome | Transcription Factors - metabolism | Carrier Proteins - genetics | Hippocampus - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Intellectual Disability - psychology | Mice | Codon, Nonsense - genetics | Genetic aspects | Genetic transcription | Nucleotide sequencing | Mental retardation | Health aspects | Methods | DNA sequencing | Genotype & phenotype | Chromatin | Mutation | Cognition & reasoning | Intellectual disabilities | Neurological disorders | Index Medicus | Life Sciences | Human health and pathology
Journal Article
Nature Neuroscience, ISSN 1097-6256, 05/2010, Volume 13, Issue 5, pp. 551 - 558
Brain structure and size require precise division of neural stem cells (NSCs), which self-renew and generate intermediate neural progenitors (INPs) and... 
HUMAN-CHROMOSOMES | PROTEIN | LIS1 EXPRESSION | LISSENCEPHALY GENE | SECKEL-SYNDROME | NASHI | SPINDLE ORIENTATION | NEUROGENESIS | NEUROSCIENCES | MESSENGER-RNA LOCALIZATION | CEREBRAL CORTICAL SIZE | Brain - embryology | Microcephaly - genetics | Embryo, Mammalian | Homeodomain Proteins - metabolism | Humans | Apoptosis - genetics | Green Fluorescent Proteins - genetics | RNA, Messenger - metabolism | Neurogenesis - genetics | DNA Mutational Analysis | Organ Size - genetics | Repressor Proteins - metabolism | Animals, Newborn | Oligonucleotide Array Sequence Analysis - methods | Repressor Proteins - genetics | Genotype | Mice, Transgenic | In Situ Nick-End Labeling - methods | Mutation - genetics | T-Box Domain Proteins - metabolism | Eye Proteins - metabolism | Brain - pathology | Mice | HeLa Cells | Paired Box Transcription Factors - genetics | Neurons - pathology | Age Factors | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Gene Expression Regulation, Developmental - genetics | Brain - growth & development | Cell Differentiation - genetics | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Transfection | Microcephaly - pathology | Microcephaly - physiopathology | Bromodeoxyuridine - metabolism | Eye Proteins - genetics | Nuclear Proteins - genetics | RNA Interference - physiology | Cell Division - genetics | Mice, Inbred C57BL | Gene Expression Profiling - methods | Nuclear Proteins - metabolism | PAX6 Transcription Factor | Nerve Tissue Proteins - genetics | T-Box Domain Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | 1-Alkyl-2-acetylglycerophosphocholine Esterase - metabolism | Animals | Stem Cells - physiology | Paired Box Transcription Factors - metabolism | Animal experimentation | Axons | Usage | Brain research | Cell division | Physiological aspects | Causes of | Research | Microcephaly | Mental retardation | Risk factors | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 898 - 904
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 695 - 703
Journal Article