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80 documents found
1: Title: Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Authors: Di Donato, Nataliya, et.al. .
Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med), 2018 .
Snippet: LIS1 accounted for 40% of patients, followed by DCX (23%), TUBA1A (5%), and DYNC1H1 (3%).
Affiliation: Institute for Clinical Genetics, TU Dresden, Dresden, Germany. Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA. Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA. Department of Pediatrics, University of Washington, Seattle, Washington, USA. Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Excellence Centre, A. Meyer Children's Hospital, University of Florence, Florence, Italy. Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Department of Human Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Department of Neurosciences, University of California San Diego, La Jolla, California, USA. Department of Neurology and Neuroscience, Weill Cornell Medical College, New York, New York, USA. Geisinger Health System, Danville, Pennsylvania, USA. Department of Neurology, University of Washington, Seattle, Washington, USA. .
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2: Title: Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
Authors: Wang, Rongyue, et.al. .
Journal: Pediatrics and neonatology (Pediatr Neonatol), 2018 .
Snippet: The ABAT, FTSJ1, DYNC1H1, and SETBP1 genes were identified as DD/ID candidate genes.
Affiliation: Southern Medical University, Guangzhou, 510515, Guangdong, China; The Second Hospital affiliated to Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China. Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China. Foshan Women and Children's Hospital, Foshan, 528000, Guangdong, China. Southern Medical University, Guangzhou, 510515, Guangdong, China; Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China. Electronic address: canliao6008@163.com. .
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3: Title: A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant.
Authors: Das, Joyutpal, et.al. .
Journal: Neurologia i neurochirurgia polska (Neurol Neurochir Pol), 2017 .
Snippet: Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED.
Affiliation: Department of Neurology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Glossop Road, Sheffield S10 2JF, United Kingdom. Electronic address: j.das@doctors.org.uk. Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Stott Lane, Salford M6 8HD, United Kingdom. Electronic address: james.lilleker@srft.nhs.uk. Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Stott Lane, Salford M6 8HD, United Kingdom. Electronic address: kavaldeep.jabbal@doctors.org.uk. Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Stott Lane, Salford M6 8HD, United Kingdom. Electronic address: john.ealing@srft.nhs.uk. .
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4: Title: A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
Authors: Szczałuba, K, et.al. .
Journal: Clinical genetics (Clin Genet), 2017 .
Snippet: Graphical summary of 'A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa' by Szczałuba et al..
Affiliation: Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland. Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland. Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. MEDGEN Medical Centre, Warsaw, Poland. Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland. .
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5: Title: Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Authors: Hayashi, Shin, et.al. .
Journal: PloS one, Vol. 12 (8): e0181791, 2017 .
Snippet: Moreover, the targeted resequencing screening detected heterozygous variants in RELN in two cases, of uncertain pathogenicity, and WES analysis suggested that concurrent mutations of both DYNC1H1 and DCTN1 in one case could lead to MICPCH.
Affiliation: Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. Hard Tissue Genome Research Center, Tokyo Medical and Dental University, Tokyo, Japan. Department of Neurobiology and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, United States of America. Genome Laboratory, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan. Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan. Department of Pediatrics, University of the Ryukyus School of Medicine, Nishihara, Japan. Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan. Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan. Department of Pediatrics, Jichi Medical School, Tochigi, Japan. Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan. Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan. .
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6: Title: [Application of chromosome microarray analysis in 489 children with developmental delay/intellectual disability].
Authors: Wang, Rongyue, et.al. .
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi), Vol. 34 (4): 528-533, 2017 .
Snippet: ABAT, PMM2, FTSJ1, DYNC1H1 and SETBP1 were considered as candidate genes for DD/ID.
Affiliation: Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China. canliao@hotmail.com. .
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7: Title: Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Authors: Beecroft, Sarah J, et.al. .
Journal: Neuromuscular disorders : NMD (Neuromuscul Disord), Vol. 27 (7): 607-615, 2017 .
Snippet: Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy.
Affiliation: Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Victorian Neuromuscular Laboratory, Alfred Health, Commercial Rd, Prahran, Vic. 3181, Australia. Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Vic. 3052, Australia; Victorian Clinical Genetics Services, Parkville, Vic. 3052, Australia. Launceston General Hospital, Launceston, Tas. 7250, Australia. Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Vic. 3052, Australia; Neurology Department, Royal Children's Hospital, Melbourne, Vic. 3052, Australia. Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara 06100, Turkey. Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara 06100, Turkey. Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Australia. Neurogenetic Unit, Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Nedlands, WA 6009, Australia. Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Nedlands, WA 6009, Australia. Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address: gina.ravenscroft@perkins.uwa.edu.au. .
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8: Title: Adult-onset spinal muscular atrophy: An update.
Authors: Juntas Morales, R, et.al. .
Journal: Revue neurologique (Rev Neurol-france), Vol. 173 (5): 308-319, 2017 .
Snippet: This report provides a general overview of the clinical features and pathophysiological mechanisms in adult-onset genetic SMA disorders in which the causative gene has been identified (SMN1-related SMA, Kennedy disease, CHCHD10, TRPV4, DYNC1H1 and BICD2).
Affiliation: Department of neurology, university hospital of Montpellier, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier, France; University of Montpellier, 641, avenue du Doyen-Gaston-Giraud, 34090 Montpellier, France. Electronic address: r-juntasmorales@chu-montpellier.fr. Department of neurology, university hospital of Montpellier, hôpital Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier, France; University of Montpellier, 641, avenue du Doyen-Gaston-Giraud, 34090 Montpellier, France. .
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9: Title: Computational prediction and analysis of deleterious cancer associated missense mutations in DYNC1H1.
Authors: Sucularli, Ceren, et.al. .
Journal: Molecular and cellular probes (Mol Cell Probes), Vol. 34, 2017 .
Snippet: Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene encodes a subunit of human cytoplasmic dynein complex, which has several crucial functions in the cell, such as intracellular transport of DNA damage proteins and mitotic spindle positioning.
Affiliation: Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, 06100, Ankara, Turkey. Electronic address: ceren.sucularli@hacettepe.edu.tr. Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, 06100, Ankara, Turkey. .
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10: Title: Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.
Authors: Laquerriere, Annie, et.al. .
Journal: Journal of neuropathology and experimental neurology (J Neuropathol Exp Neurol), Vol. 76 (3): 195-205, 2017 .
Snippet: We report on the detailed neuropathological features of brain lesions from 2 fetuses aged 36 and 22 weeks of gestation (WG), respectively, carrying de novo DYNC1H1 mutations, p.Arg2720Lys and p.Val3951Ala and presenting the most severe phenotype reported to date.
Affiliation: From the Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie University, Rouen University Hospital, NeoVasc Team, UNIROUEN, Inserm U1245, Rouen, France (AL, FM), Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France (CM, MC, ST, NBB); Pediatric Neurology, Necker Enfants Malades University Paris Hospital, APHP, Paris, France (MC, NBB);, Pathology Laboratory, Caen University Hospital, Caen France (FC); Service de Génétique Pôle Biologie et Pharmacie Rouen University Hôpital, France (ADAM); Clinical Genetics, Hôpital de La Timone, APHM, Marseille University Hospital, Marseille France (SS); Department of Radiology, Caen University Hospital, Caen France (MB); Department of Obstetrics and Gynaecology, Caen University Hospital, Caen France (GB); Department of Pathology and Neuropathology, La Timone University Hospital, Marseille, France (CF); Inserm, U1016, Institut Cochin, Paris, France (KP); CNRS, UMR8104, Paris, France (KP); Denis Diderot School of Medicine, Sorbonne-Paris Cité University, Paris, France (KP); IGBMC, INSERM U964, CNRS UMR 7104, Université de Strasbourg, Illkirch, France (JC); and Pôle de Biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France (JC). .
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11: Title: LMD proteomics provides evidence for hippocampus field-specific motor protein abundance changes with relevance to Alzheimer's disease.
Authors: Schrötter, Andreas, et.al. .
Journal: Biochimica et biophysica acta (Biochim Biophys Acta), Vol. 1865 (6): 703-714, 2017 .
Snippet: RESULTS: Comparison of CA1 to CA2 revealed 223, CA1 to CA3 197 proteins with differential abundance, among them we found motor proteins MYO5A and DYNC1H1.
Affiliation: Leibniz-Institut für Analytische Wissenschaften -ISAS- e. V., Biomedical Research, Dortmund, Germany; Leibniz-Institut für Analytische Wissenschaften -ISAS- e. V., Human Brain Proteomics I, Dortmund, Germany. Leibniz-Institut für Analytische Wissenschaften -ISAS- e. V., Dortmund, Germany. Chair of Plant Biochemistry, Ruhr University Bochum, Bochum, Germany. Institute of Biochemistry and Pathobiochemistry, Ruhr University Bochum, Bochum, Germany. Leibniz-Institut für Analytische Wissenschaften -ISAS- e. V., Biomedical Research, Dortmund, Germany. Institut of Legal Medicine, Julius-Maximilians-University Würzburg, Würzburg, Germany. Center of Mental Health, Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Füchsleinstrasse 15, 97080 Würzburg, Germany. Institute of Legal Medicine and Forensic Sciences, Ludwig-Maximilians-University Munich, Munich, Germany. Department of Neuroanatomy, Ludwig-Maximilians University of Munich Munich, Germany. Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich D-81377,Germany. Department of Psychiatry, Psychiatric Clinic, Julius-Maximilians-University Würzburg, Germany; Department of Pathology, LIM 22, University of São Paulo Medical School, São Paulo, Brazil. Leibniz-Institut für Analytische Wissenschaften -ISAS- e. V., Biomedical Research, Dortmund, Germany. Electronic address: helmut.e.meyer@isas.de. .
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12: Title: Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
Authors: Lin, Zhongdong, et.al. .
Journal: Scientific reports (Sci Rep), Vol. 7 (1): 258, 2017 .
Snippet: Furthermore, we observed that the de novo mutations of DYNC1H1 were identified in several different neuropsychiatric disorders including EE, autism spectrum disorders and intellectual disabilities by previous studies, and these mutations primarily occurred in the functional domain of the protein.
Affiliation: Institute of Neurobiology, Xi'an Jiaotong University Health Science Center, Xian, China. Department of Pediatric Neurology, The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China. Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, China. Research Center of Blood Transfusion Medicine, Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial People's Hospital, Hangzhou, China. Research Center of Blood Transfusion Medicine, Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial People's Hospital, Hangzhou, China. yuchen6046@163.com. Institute of Neurobiology, Xi'an Jiaotong University Health Science Center, Xian, China. liuy5599@mail.xjtu.edu.cn. .
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13: Title: DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.
Authors: Hoang, Ha Thi, et.al. .
Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A), Vol. 114 (9): E1597-E1606, 2017 .
Snippet: We functionally characterize 14 DYNC1H1 mutations identified in humans diagnosed with malformations in cortical development (MCD) or spinal muscular atrophy with lower extremity predominance (SMALED), as well as three mutations that cause motor and sensory defects in mice.
Affiliation: Division of Cell Biology, Medical Research Council (MRC) Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom. Division of Structural Studies, MRC Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom. Division of Cell Biology, Medical Research Council (MRC) Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom; sbullock@mrc-lmb.cam.ac.uk. .
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14: Title: Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
Authors: Chen, Yulin, et.al. .
Journal: Journal of child neurology (J Child Neurol), Vol. 32 (4): 379-386, 2017 .
Snippet: DYNC1H1 is a pivotal component of cytoplasmic dynein complex, which is a microtubule-related motor involved in retrograde transport.
Affiliation: 1 Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, PR China. 2 Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA. .
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15: Title: Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Authors: Ravenscroft, Gianina, et.al. .
Journal: Neuromuscular disorders : NMD (Neuromuscul Disord), Vol. 26 (11): 744-748, 2016 .
Snippet: Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1.
Affiliation: Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia. Electronic address: gina.ravenscroft@perkins.uwa.edu.au. Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, TU Dresden, Dresden, Germany. Institut und Poliklinik für Radiologische Diagnostik, Universitätsklinikum Dresden, Dresden, Germany. Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia. John Hunter Children's Hospital, Hunter Valley, New South Wales, Australia. Genetic Health Services, Auckland, New Zealand. Medizinisch Genetisches Zentrum, Munich, Germany. Seattle Children's Research Institute, Seattle, WA, USA. Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia. .
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16: Title: Genetic Basis of Brain Malformations.
Authors: Parrini, Elena, et.al. .
Journal: Molecular syndromology (Mol Syndromol), Vol. 7 (4): 220-233, 2016 .
Snippet: More recent studies have also established a relationship between lissencephaly, with or without associated microcephaly, corpus callosum dysgenesis as well as cerebellar hypoplasia, and at times, a morphological pattern consistent with polymicrogyria with mutations of several genes (TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, and DYNC1H1), regulating the synthesis and function of microtubule and centrosome key components and hence defined as tubulinopathies.
Affiliation: Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy. Division of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Wash., USA. .
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17: Title: Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient.
Authors: Gelineau-Morel, Rose, et.al. .
Journal: Genes (Genes (basel)), Vol. 7 (10), 2016 .
Snippet: Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport.
Affiliation: Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Rose.Gelineau.Morel@cchmc.org. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Marshall.Lukacs@cchmc.org. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Kathryn.Weaver@cchmc.org. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Robert.hufnagel@nih.gov. Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Donald.Gilbert@cchmc.org. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. rolf.stottmann@cchmc.org. Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. rolf.stottmann@cchmc.org. .
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18: Title: Visualization of single endogenous polysomes reveals the dynamics of translation in live human cells.
Authors: Pichon, Xavier, et.al. .
Journal: The Journal of cell biology (J Cell Biol), Vol. 214 (6): 769-81, 2016 .
Snippet: We also observe that DYNC1H1 polysomes are actively transported by motors, which may deliver the mature protein at appropriate cellular locations.
Affiliation: Institut de Génétique Moléculaire de Montpellier, UMR5535 CNRS, 34293 Montpellier Cedex 5, France; Université de Montpellier, 34090 Montpellier, France xavier.pichon@igmm.cnrs.fr edouard.bertrand@igmm.cnrs.fr. Institut de Génétique Moléculaire de Montpellier, UMR5535 CNRS, 34293 Montpellier Cedex 5, France; Université de Montpellier, 34090 Montpellier, France. Unité Imagerie et Modélisation, Institut Pasteur, UMR3691, Centre National de la Recherche Scientifique, 75015 Paris, France. .
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19: Title: Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Authors: Laššuthová, Petra, et.al. .
Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis), Vol. 11 (1): 118, 2016 .
Snippet: Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of disorders with high genetic heterogeneity.
Affiliation: Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. petra.lassuthova@gmail.com. Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. .
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20: Title: A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.
Authors: Hertecant, Jozef, et.al. .
Journal: Meta gene (Unknown Journal), Vol. 9, 2016 .
Snippet: Mutations in DYNC1H1, the gene encoding the largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders.
Affiliation: Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates. Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. .
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