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1. Full Text Ependymal cells: biology and pathology
by Del Bigio, Marc R and Del Bigio, Marc R
Acta neuropathologica, ISSN 0001-6322, 1/2010, Volume 119, Issue 1, pp. 55 - 73
Mammal | Pathology | Brain | Neurosciences | Glial cell | Medicine & Public Health | Hydrocephalus | Brain development | Cell junction | Ependyma | Cilia | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cilia - physiology | Epithelial Cells - physiology | Animals | Cilia - pathology | Vascular Diseases - pathology | Neurogenesis - physiology | Epithelial Cells - virology | Humans | Epithelial Cells - pathology | Membrane Transport Proteins - metabolism | Vascular Diseases - physiopathology | Health aspects | Aquaporins | Index Medicus
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2. Full Text Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
by Bhoj, Elizabeth J and Haye, Damien and Toutain, Annick and Bonneau, Dominique and Nielsen, Irene Kibæk and Lund, Ida Bay and Bogaard, Pauline and Leenskjold, Stine and Karaer, Kadri and Wild, Katherine T and Grand, Katheryn L and Astiazaran, Mirena C and Gonzalez-Nieto, Luis A and Carvalho, Ana and Lehalle, Daphné and Amudhavalli, Shivarajan M and Repnikova, Elena and Saunders, Carol and Thiffault, Isabelle and Saadi, Irfan and Li, Dong and Hakonarson, Hakon and Vial, Yoann and Zackai, Elaine and Callier, Patrick and Drunat, Séverine and Verloes, Alain
European journal of medical genetics, ISSN 1769-7212, 12/2019, Volume 62, Issue 12, pp. 103588 - 103588
SPECC1L | Nosology | Bicornuate uterus | Opitz BBBG syndrome | Omphalocele | MID1 | Teebi hypertelorism syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Growth Disorders - pathology | Humans | Child, Preschool | Foot Deformities, Congenital - genetics | Hydrocephalus - pathology | Male | Obesity - genetics | Mental Retardation, X-Linked - genetics | Facies | Adult | Craniofacial Abnormalities - pathology | Female | Hydrocephalus - genetics | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Foot Deformities, Congenital - pathology | Mental Retardation, X-Linked - pathology | Hypertelorism - genetics | Hypospadias - genetics | Hypertelorism - pathology | Phosphoproteins - genetics | Esophagus - abnormalities | Obesity - pathology | Esophagus - pathology | Phenotype | Hand Deformities, Congenital - genetics | Pedigree | Adolescent | Mutation | Growth Disorders - genetics | Hypospadias - pathology | Hand Deformities, Congenital - pathology | Index Medicus | Life Sciences | nosology | omphalocele | bicornuate uterus
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3. Full Text Pathogenic implications of cerebrospinal fluid barrier pathology in neuromyelitis optica
by Guo, Yong and Weigand, Stephen D and Popescu, Bogdan F and Lennon, Vanda A and Parisi, Joseph E and Pittock, Sean J and Parks, Natalie E and Clardy, Stacey L and Howe, Charles L and Lucchinetti, Claudia F
Acta neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 597 - 612
Choroid plexus | Pathology | Immunopathology | Neurosciences | Medicine & Public Health | Hydrocephalus | Complement | Astrocyte | Leptomeninges | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Microglia - metabolism | Ependyma - pathology | Spinal Cord - metabolism | Humans | Middle Aged | Astrocytes - pathology | Choroid Plexus - metabolism | Male | Pia Mater - pathology | Young Adult | Pia Mater - metabolism | Spinal Cord - pathology | Aged, 80 and over | Microglia - pathology | Adult | Female | Gene Expression | Choroid Plexus - pathology | Cerebrospinal Fluid | Neuromyelitis Optica - metabolism | Ependyma - metabolism | Neuromyelitis Optica - pathology | Aquaporin 4 - metabolism | Adolescent | Aged | Astrocytes - metabolism | Cohort Studies | Autoimmunity | Medical research | Nervous system diseases | Aquaporins | Immunoglobulin G | Medicine, Experimental | Neuromyelitis optica | Comparative analysis | Index Medicus | Original Paper
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4. Full Text De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
by Wallmeier, Julia and Frank, Diana and Shoemark, Amelia and Nöthe-Menchen, Tabea and Cindric, Sandra and Olbrich, Heike and Loges, Niki T and Aprea, Isabella and Dougherty, Gerard W and Pennekamp, Petra and Kaiser, Thomas and Mitchison, Hannah M and Hogg, Claire and Carr, Siobhán B and Zariwala, Maimoona A and Ferkol, Thomas and Leigh, Margaret W and Davis, Stephanie D and Atkinson, Jeffrey and Dutcher, Susan K and Knowles, Michael R and Thiele, Holger and Altmüller, Janine and Krenz, Henrike and Wöste, Marius and Brentrup, Angela and Ahrens, Frank and Vogelberg, Christian and Morris-Rosendahl, Deborah J and Omran, Heymut
American journal of human genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 1030 - 1039
FOXJ1 | lung disease | cilia | ependyma | hydrocephalus | ciliogenesis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cerebral Ventricles - pathology | Ependyma - pathology | Cilia - pathology | Humans | Epithelial Cells - pathology | Hydrocephalus - pathology | Forkhead Transcription Factors - genetics | Mutation - genetics | Cilia - genetics | Ciliopathies - genetics | Basal Bodies - pathology | Hydrocephalus - genetics | Ciliopathies - pathology | Genetic aspects | Research | Hydrocephalus | Gene mutations | Risk factors | Index Medicus | Report
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5. Full Text Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities
by Sikora, Jakub and Dworski, Shaalee and Jones, E. Ellen and Kamani, Mustafa A and Micsenyi, Matthew C and Sawada, Tomo and Le Faouder, Pauline and Bertrand-Michel, Justine and Dupuy, Aude and Dunn, Christopher K and Xuan, Ingrid Cong Yang and Casas, Josefina and Fabrias, Gemma and Hampson, David R and Levade, Thierry and Drake, Richard R and Medin, Jeffrey A and Walkley, Steven U
The American journal of pathology, ISSN 0002-9440, 2017, Volume 187, Issue 4, pp. 864 - 883
Pathology | Life Sciences & Biomedicine | Science & Technology | Nervous System Malformations - etiology | Neurons - pathology | Nervous System Malformations - pathology | Central Nervous System - abnormalities | Central Nervous System - pathology | Hydrocephalus - pathology | Mice, Transgenic | Sphingolipids - metabolism | Farber Lipogranulomatosis - complications | Motor Activity | Cerebellum - pathology | Behavior, Animal | Homozygote | Phenotype | Animals | Cerebrum - ultrastructure | Neurons - ultrastructure | Time Factors | Farber Lipogranulomatosis - pathology | Mice | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Cerebellum - ultrastructure | Cerebrum - pathology | Acid Ceramidase - metabolism | Index Medicus | Abridged Index Medicus | Regular
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6. Full Text Brain water channel proteins in health and disease
by Benga, Oana and Huber, Vincent J
Molecular aspects of medicine, ISSN 0098-2997, 10/2012, Volume 33, Issue 5-6, pp. 562 - 578
Autism | Brain water | Brain edema | Brain pathologies | Aquaporins | Water channel proteins | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Autistic Disorder - pathology | Autistic Disorder - metabolism | Humans | Aquaporins - chemistry | Brain Neoplasms - pathology | Hydrocephalus - pathology | Hydrocephalus - metabolism | Pain - metabolism | Brain Neoplasms - metabolism | Eclampsia - metabolism | Brain - metabolism | Stroke - pathology | Aquaporins - classification | Dementia - metabolism | Aquaporins - physiology | Female | Brain Edema - metabolism | Dementia - pathology | Signal Transduction | Brain Edema - pathology | Pain - pathology | Pregnancy | Water-Electrolyte Imbalance - metabolism | Stroke - metabolism | Water-Electrolyte Imbalance - pathology | Brain - pathology | Eclampsia - pathology | Brain | Dementia | Index Medicus
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