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Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephalyAllan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) geneDysregulation and restoration of translational homeostasis in fragile X syndromeFragile X syndrome as a rare disease in China - Therapeutic challenges and opportunitiesFragile X syndromeThe pathophysiology of fragile X (and what it teaches us about synapses)The unstable repeats--three evolving faces of neurological diseaseFragile X and X-linked intellectual disability: four decades of discoveryStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneThe fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiologyProgress toward therapeutic potential for AFQ056 in Fragile X syndrome.Ras and Rap signaling in synaptic plasticity and mental disorders.Treatments for fragile X syndrome: a closer look at the data.Molecular and cellular genetics of fragile X syndrome.Fragile X syndrome: a review of clinical and molecular diagnoses.The fragile X syndrome: the patients and their chromosomes.Fragile X syndrome: a major cause of X-linked mental retardationEpigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.A combination of ascorbic acid and α-tocopherol to test the effectiveness and safety in the fragile X syndrome: study protocol for a phase II, randomized, placebo-controlled trialRecessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family.Fragile X syndrome: an update on developing treatment modalities.Splitting and lumping in the nosology of XLMR.FMR1 and the fragile X syndrome: human genome epidemiology reviewIncreasing our understanding of human cognition through the study of Fragile X Syndrome.Toward fulfilling the promise of molecular medicine in fragile X syndromeAmygdala regulation of fear and emotionality in fragile X syndrome.Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.X linked mental retardation: a clinical guide.Chromosomal fragility and human genetic disorders.The role of glycogen synthase kinase-3 signaling in neurodevelopment and fragile X syndromeSynaptic plasticity in mouse models of autism spectrum disorders.Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.Profiles of aberrant white matter microstructure in fragile X syndrome.Recently recognized chromosomal defects of clinical importance.Epigenetics in nucleotide repeat expansion disorders.Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia.Advancing drug discovery for neuropsychiatric disorders using patient-specific stem cell models.Drosophila melanogaster As a Model Organism to Study RNA Toxicity of Repeat Expansion-Associated Neurodegenerative and Neuromuscular DiseasesHeads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells.
P2860
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P2860
description
1943 nî lūn-bûn
@nan
1943 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1943 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1943年の論文
@ja
1943年論文
@yue
1943年論文
@zh-hant
1943年論文
@zh-hk
1943年論文
@zh-mo
1943年論文
@zh-tw
1943年论文
@wuu
name
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
@nl
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@ast
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@en
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@en-gb
type
label
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
@nl
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@ast
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@en
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@en-gb
prefLabel
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE
@nl
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@ast
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@en
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@en-gb
P356
P1476
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
@en
P2093
P304
P356
10.1136/JNNP.6.3-4.154
P407
P577
1943-07-01T00:00:00Z