A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.
about
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardationCDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeSynaptophysin: structure of the human gene and assignment to the X chromosome in man and mouseMutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationRett syndrome: revised diagnostic criteria and nomenclaturePathophysiology of locus ceruleus neurons in a mouse model of Rett syndromeRett syndrome and MeCP2: linking epigenetics and neuronal functionEmerging pharmacotherapies for neurodevelopmental disordersBioaminergic neuromodulation of respiratory rhythm in vitroNTNG1 mutations are a rare cause of Rett syndromeCDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailRett syndrome: clinical review and genetic updateRett syndrome and the MECP2 geneModifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in DiseaseMECP2 disorders: from the clinic to mice and backThe Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeBDNF deregulation in Rett syndromeTargeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromesGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Rett Syndrome: Reaching for Clinical TrialsA review of Rett syndrome (RTT) with induced pluripotent stem cellsDiscovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsFrontal lobe disinhibition, Rett syndrome and attention deficit hyperactivity disorderRett syndrome: a prototypical neurodevelopmental disorderMethylation mattersUsing mouse models of autism spectrum disorders to study the neurotoxicology of gene-environment interactionsMeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse numberA brain-derived MeCP2 complex supports a role for MeCP2 in RNA processingAutonomic cardiovascular control in methyl-CpG-binding protein 2 (Mecp2) deficient miceA partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndromeEnhanced cell death in MeCP2 null cerebellar granule neurons exposed to excitotoxicity and hypoxiaMetabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome modelMecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neuronsEnhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndromeProfile of Huda Y. Zoghbi.MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female ratsDysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesBrain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturationUnexpected cellular players in Rett syndrome pathologyCharacterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats
P2860
Q24296972-0B43EDB8-A682-40A1-BF70-5A258D7B4F3FQ24303656-19BC9602-FBDD-41C6-8C4B-A4EEA2289B8FQ24316061-50BB83B6-992A-4753-A01A-9E7F1B5F0A32Q24534159-3D772DD8-2F7C-417E-AA5B-E80BED4C33FEQ24596295-DB85CF38-D7B9-4D74-B872-9504582A2D6FQ24610771-07E71CB8-CEA4-48BC-B21E-5ECEE750FCF0Q24616417-A12A12FA-A3CF-4154-9081-5D75F33875B6Q24619170-5EDF0DAF-AC69-46A6-96A1-057326A8B540Q24643036-A3AB7570-F386-4CF4-A723-422A70825F8CQ24644799-1E5F4602-9FFC-4003-B5AA-5F4DDDDA3E50Q24651382-D587ABA1-85F0-4F00-A1FD-B36BD5C17188Q24674633-87B6BAD2-9BE6-4B7C-A264-09CF143FDE87Q24680354-6F660E2A-9B2B-4CEF-850D-6A6F49C6C18BQ26742136-B77D9EA6-8BA8-4D58-BE8E-408B0CDFD805Q26799760-0F9B05C7-559A-4CFF-A9A5-17D33ECEFBDFQ26800087-FA7D913E-8595-4907-8A32-5D05DBEFBE18Q27005901-55921213-DA32-4ABA-9D92-DFFCB04AA866Q27023257-80C0AC96-C745-47D4-9F6B-3D81951AAB1BQ27322815-AC6B64D0-1EF6-4594-9B2F-43EB5F3C41DFQ27337778-774AE4C2-31EA-40C3-8924-8DC963C62559Q28072303-246788FD-A2B3-4158-8205-022432838206Q28087577-45DF2CDD-C994-4D6D-A82C-2F49D0DF5CA9Q28201159-51881719-FC0A-4671-B0DC-64F92CD1C93DQ28255289-74E919C2-1720-4995-9CDC-B5CD8197B979Q28364163-8C81A3FE-3997-44A3-A44A-18D917EE7EAFQ28392778-020DA4E3-57D8-49AB-BEB4-D31877101F92Q28507266-E9AD05A6-B95C-44F1-AE8E-8225C288A9CAQ28572490-7ADD9A32-E399-492A-A65E-2F75E9796617Q28584738-0A51EB08-4CB7-4AD9-B851-8FC125A10BE0Q28586765-C758E40B-954E-4124-9CF7-F6C30BE7C2CBQ28589283-F2AFCA0A-C0FA-476A-AC95-BC22BC34DF8CQ28591714-AA957575-0624-4431-A731-ED2D2C43895AQ28593320-FDE73AE6-D6CE-401C-AD25-325A3049AF5FQ28595032-F1AEA387-B56E-47B5-852F-68C05206C38DQ28768251-3C49DEDC-8057-4268-A2D8-A8EB4B1DB6EAQ28818736-6A82C5DE-807C-46F4-9255-C17C99E2D151Q29616326-C2188543-126B-4EAE-8538-A4C3D1FED5D5Q29616327-643EAB6F-3AA4-4AB5-A965-34E1EB2640DAQ30299929-A9C09382-6863-431B-BB65-2D5DB2D78FB1Q30381238-213B6687-3D59-4714-AD7E-B3D7FBA69CC8
P2860
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.
description
1983 nî lūn-bûn
@nan
1983 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@ast
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@en
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@nl
type
label
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@ast
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@en
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@nl
prefLabel
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@ast
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@en
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@nl
P2093
P356
P1433
P1476
A progressive syndrome of auti ...... syndrome: report of 35 cases.
@en
P2093
P304
P356
10.1002/ANA.410140412
P577
1983-10-01T00:00:00Z