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1. Full Text Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
by Manzini, M. Chiara and Tambunan, Dimira E and Hill, R. Sean and Yu, Tim W and Maynard, Thomas M and Heinzen, Erin L and Shianna, Kevin V and Stevens, Christine R and Partlow, Jennifer N and Barry, Brenda J and Rodriguez, Jacqueline and Gupta, Vandana A and Al-Qudah, Abdel-Karim and Eyaid, Wafaa M and Friedman, Jan M and Salih, Mustafa A and Clark, Robin and Moroni, Isabella and Mora, Marina and Beggs, Alan H and Gabriel, Stacey B and Walsh, Christopher A
American journal of human genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 541 - 547
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Malformations of the nervous system | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Exome | Walker-Warburg Syndrome - genetics | Glycosyltransferases - genetics | Mutation | Humans | Usage | Gene mutations | Encephalopathy | Analysis | Exome sequencing | Glycosyltransferases | Causes of | Genetic aspects | Glycosylation | Research | Health aspects | Proteins | Zebrafish | Genomes | Gene loci | Genetic disorders | Index Medicus | Report
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2. Full Text Microsampling Capillary Electrophoresis Mass Spectrometry Enables Single-Cell Proteomics in Complex Tissues: Developing Cell Clones in Live Xenopus laevis and Zebrafish Embryos
by Lombard-Banek, Camille and Moody, Sally A and Manzini, M. Chiara and Nemes, Peter
Analytical chemistry (Washington), ISSN 0003-2700, 04/2019, Volume 91, Issue 7, pp. 4797 - 4805
Physical Sciences | Chemistry | Chemistry, Analytical | Science & Technology | Spectroscopy | Capillary electrophoresis | Electrokinetics | Zebrafish | Mass spectroscopy | Tissues | Embryos | Amphibians | Proteins | Vertebrates | Ionization | Technology | Proteomics | Electrophoresis | Scientific imaging | Mass spectrometry | Index Medicus | Xenopus | Microsampling | Single cell analysis
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3. Full Text Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders
by Mossa, Adele and Manzini, M. Chiara
Journal of neuroscience research, ISSN 0360-4012, 01/2021, Volume 99, Issue 1, pp. 37 - 56
sex bias | animal models | neurodevelopmental disorders | autism | sex differences | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Autism | Chromatin | Gene mutations | Analysis | Disease susceptibility | Models | Sex discrimination | Genetic engineering | Animal models | Intellectual disabilities | Bias | Genes | Sex | Sexual behavior | Disorders | Extracellular signal-regulated kinase | Sex differences | Intracellular signalling | Gender differences | Methylenetetrahydrofolate reductase | Males | Neurodevelopmental disorders | Chromatin remodeling | Haploinsufficiency | ADNP protein | Molecular modelling | Rodents | Gender aspects | Females | Index Medicus | Neurodevelopment | Early Life | Review
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4. Full Text Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
by Stevens, Elizabeth and Carss, Keren J and Cirak, Sebahattin and Foley, A. Reghan and Torelli, Silvia and Willer, Tobias and Tambunan, Dimira E and Yau, Shu and Brodd, Lina and Sewry, Caroline A and Feng, Lucy and Haliloglu, Goknur and Orhan, Diclehan and Dobyns, William B and Enns, Gregory M and Manning, Melanie and Krause, Amanda and Salih, Mustafa A and Walsh, Christopher A and Hurles, Matthew and Campbell, Kevin P and Manzini, M. Chiara and Stemple, Derek and Lin, Yung-Yao and Muntoni, Francesco and UK10K Consortium
American journal of human genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 354 - 365
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fibroblasts - enzymology | Humans | Brain - enzymology | Dystroglycans - metabolism | Endoplasmic Reticulum - metabolism | Infant | Male | Muscle, Skeletal - metabolism | Muscular Dystrophies - genetics | Brain - metabolism | N-Acetylgalactosaminyltransferases - genetics | Muscular Dystrophies - enzymology | Female | N-Acetylgalactosaminyltransferases - metabolism | Fibroblasts - metabolism | Endoplasmic Reticulum - enzymology | Cell Line | Genetic Predisposition to Disease | Muscle, Skeletal - enzymology | Muscular Dystrophies - metabolism | Endoplasmic Reticulum - genetics | Zebrafish | Glycosylation | Animals | Dystroglycans - genetics | Mutation | Index Medicus
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5. Full Text What disorders of cortical development tell us about the cortex: one plus one does not always make two
by Manzini, M Chiara and Walsh, Christopher A
Current opinion in genetics & development, ISSN 0959-437X, 2011, Volume 21, Issue 3, pp. 333 - 339
Medical Education | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Cell Proliferation | Humans | Microtubules - physiology | Walker-Warburg Syndrome - genetics | Malformations of Cortical Development, Group II - genetics | Cell Movement - genetics | Cell Movement - physiology | Neurogenesis - genetics | Microtubules - genetics | Neurogenesis - physiology | Neurons - physiology | Cerebral Cortex - growth & development | Centrosome - physiology | Cerebral Cortex - abnormalities | Index Medicus
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6. Full Text Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain
by Maynard, Thomas M and Manzini, M. Chiara
Neuron (Cambridge, Mass.), ISSN 0896-6273, 02/2017, Volume 93, Issue 3, pp. 476 - 479
blood brain barrier | brain metabolism | mTor | protein synthesis | autism spectrum disorder | branched amino acids | amino acid transport | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain | Autistic Disorder | Amino Acids | Autism | Amino acids | Medical colleges | Protein biosynthesis | Urine | Dehydrogenases | Neurons | Genes | Homeostasis | Kinases | Metabolism | Proteins | Protein synthesis | Attention Deficit Hyperactivity Disorder | Genetic engineering | Mutation | Index Medicus
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7. Full Text Cross‐Coupling of Heteroarenes by CH Functionalization: Recent Progress towards Direct Arylation and Heteroarylation Reactions Involving Heteroarenes Containing One Heteroatom
by Rossi, Renzo and Bellina, Fabio and Lessi, Marco and Manzini, Chiara
Advanced synthesis & catalysis, ISSN 1615-4150, 01/2014, Volume 356, Issue 1, pp. 17 - 117
chemoselectivity | heteroarenes | transition metal catalysts | CH bond functionalization | site selectivity | arylation | Site selectivity | Arylation | Transition metal catalysts | Chemoselectivity | C-H bond functionalization | Heteroarenes | Physical Sciences | Chemistry | Chemistry, Organic | Chemistry, Applied | Science & Technology | Economics | Synthesis | Precursors | Halides | Metalorganic compounds | Forming | Catalysis | Construction costs
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