De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
about
Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsDe novo mutations in moderate or severe intellectual disabilityGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationThe clearance of dying cells: table for twoThe Function of Autophagy in Neurodegenerative DiseasesThe Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeWIPI-Mediated Autophagy and LongevityAutophagy and neurodegenerationEaten alive: novel insights into autophagy from multicellular model systemsTECPR2 Associated Neuroaxonal Dystrophy in Spanish Water DogsNon-Canonical Cell Death Induced by p53Neurodegeneration with brain iron accumulation: diagnosis and managementAutophagy in Neurodegenerative Diseases and Metal NeurotoxicityDe Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyBiallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathyNeurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.WDR45 mutations in three male patients with West syndrome.Role of genetic variants of autophagy genes in susceptibility for non-medullary thyroid cancer and patients outcomeNewly characterized forms of neurodegeneration with brain iron accumulation.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Signals from the lysosome: a control centre for cellular clearance and energy metabolism.Clinical Presentation and Microarray Analysis of Peruvian Children with Atypical Development and/or Aberrant BehaviorDe novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.Autophagy and human disease: emerging themes.Age-induced reduction of autophagy-related gene expression is associated with onset of Alzheimer's disease.Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathyThe autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasisBeta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.Next-generation sequencing in X-linked intellectual disability.WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
P2860
Q21129274-11594E56-FC32-44EF-A9C5-3D79EFB990ABQ21144861-3C0CA46D-1007-45C1-B5B8-153F38C8F3C6Q22676705-7F6672C4-63E2-41CA-AB6F-06CE3226B8F9Q24315627-C3CC2FE4-3836-4C8C-AB87-FFE77AFD5198Q26753825-506328A7-DA0B-4D73-AEB3-A48CCB7762FEQ26777018-7A4D38CF-D133-47BA-9D2E-3F2661ED1135Q26800087-317053D3-5216-46CB-A525-24603DE9A24DQ26823345-C2E70E32-675D-40B5-A124-1E6EA422E411Q26991692-C0C73AFD-CB76-4805-8BBD-F4E69E343E48Q27005828-B6CEA139-6AED-472A-897F-116ADECBD34DQ27348024-EF103B5D-1BD0-4C01-9A7B-D68A7F72E991Q28080158-B1AAFABB-9DC5-47C4-9775-58453DF1FA04Q28085510-C766F24C-58AC-48EA-B414-BEC111BE426BQ28273228-DE2F6B22-2885-45A2-B230-D4F808C60C94Q28297699-F5A5FF1B-BCEF-4936-8A4A-5A9C5BC9293EQ29147433-B26DA8F6-6E5B-4264-82AC-6B72BC0DE029Q30882077-2F7A2924-D0DB-47F4-8CCC-C8BA854D6C6AQ31065497-F74A6D52-0DD4-41B8-A063-AB982E2B3746Q31158779-AEBD36B8-5A99-4E93-BB37-E2258DC9DD41Q33792197-8672BDF6-101A-4987-A726-157998CB3E7FQ34336776-CD6BBD15-598E-4866-AFDD-D02FC7BA27C4Q34340780-516F5C3D-08EF-4D9D-92E5-05A7DB873C8EQ34461103-4A482D1D-6E34-4122-AE8A-6B474DA431E5Q34498388-2AF03F35-E0AE-4AC3-9F80-1D3DA6A24A4DQ34620377-1931CA75-45B2-4F20-9768-EAB6D1001574Q34987490-4D2F6095-4759-4D3F-B278-AFF10DC1F6D5Q35802324-AEDC9CB0-474A-4318-AA67-2E96515B139FQ35852822-3B4E7DCB-EF10-4035-B5E1-FD03D9675FE6Q35866140-908A1F3F-8ECD-462E-9C05-18572C476AFAQ36184604-7E5FCEC0-AC42-4B1F-80FD-CA38B0470351Q36193298-CB4CE995-CCFF-457D-83B2-17CD356CB32AQ36251993-AA2DFDA3-1927-448C-BE89-E0A2A21C36EAQ36381145-FEE463C8-AFCB-4795-A14D-D55ABDDF817FQ36673666-258FC3A1-F535-463E-B2ED-D976D5BF31ABQ36695851-F28BD0F2-7A54-4AF5-9174-0FB524563E71Q36762370-EDFFA27F-225A-4F38-83B8-7AD5A1BBF2CFQ36800670-073A97C6-DC16-4F57-9431-0E695F664B39Q36802217-01CBC20E-232D-41B1-BDBC-F0BA3163D2B3Q36891722-530CF07C-0A24-42CB-A966-A7F8F68F87DCQ37058040-3C185B18-E46E-4D20-9BE2-CC9F4D2E8E9C
P2860
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
description
2013 nî lūn-bûn
@nan
2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
De novo mutations in the autop ...... neurodegeneration in adulthood
@ast
De novo mutations in the autop ...... neurodegeneration in adulthood
@en
De novo mutations in the autop ...... neurodegeneration in adulthood
@en-gb
De novo mutations in the autop ...... neurodegeneration in adulthood
@nl
type
label
De novo mutations in the autop ...... neurodegeneration in adulthood
@ast
De novo mutations in the autop ...... neurodegeneration in adulthood
@en
De novo mutations in the autop ...... neurodegeneration in adulthood
@en-gb
De novo mutations in the autop ...... neurodegeneration in adulthood
@nl
prefLabel
De novo mutations in the autop ...... neurodegeneration in adulthood
@ast
De novo mutations in the autop ...... neurodegeneration in adulthood
@en
De novo mutations in the autop ...... neurodegeneration in adulthood
@en-gb
De novo mutations in the autop ...... neurodegeneration in adulthood
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
De novo mutations in the autop ...... neurodegeneration in adulthood
@en
P2093
Ai Hoshino
Emi Kasai-Yoshida
Fukiko Ryujin
Hirofumi Kodera
Hirokazu Arakawa
Hiroya Nishida
Kenji Sugai
Kiyomi Nishiyama
Mitsuko Nakashima
Naomichi Matsumoto
P2860
P2888
P304
445-9, 449e1
P3181
P356
10.1038/NG.2562
P407
P577
2013-04-01T00:00:00Z
P6179
1003620720