| Item Type | Name |
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Concept
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Mutation
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Concept
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Point Mutation
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Concept
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Mutation, Missense
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Concept
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Frameshift Mutation
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Academic Article
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Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease.
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Academic Article
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Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
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Academic Article
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Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.
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Academic Article
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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
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Academic Article
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FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
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Academic Article
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Progression of tremor and ataxia in male carriers of the FMR1 premutation.
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Academic Article
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Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
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Academic Article
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Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
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Academic Article
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Fibroblast phenotype in male carriers of FMR1 premutation alleles.
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Academic Article
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Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
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Academic Article
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Tremor and ataxia in fragile X premutation carriers: blinded videotape study.
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Academic Article
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
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Academic Article
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Importance of a specialty clinic for individuals with fragile X syndrome.
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Academic Article
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Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
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Academic Article
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
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Academic Article
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Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
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Academic Article
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CDKL5 and ARX mutations in males with early-onset epilepsy.
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Academic Article
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
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Academic Article
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
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Academic Article
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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
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Academic Article
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Mutations in prickle orthologs cause seizures in flies, mice, and humans.
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Academic Article
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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
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Academic Article
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
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Academic Article
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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
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Academic Article
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Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
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Academic Article
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Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
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Academic Article
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Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.
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Academic Article
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Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
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Academic Article
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
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Academic Article
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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
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Academic Article
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Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
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Academic Article
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In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
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Academic Article
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Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
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Academic Article
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Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
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Academic Article
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Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
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Academic Article
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Neurological and endocrine phenotypes of fragile X carrier women.
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Academic Article
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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
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Academic Article
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Advances in the treatment of fragile X syndrome.
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Academic Article
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Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
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Academic Article
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Aging in individuals with the FMR1 mutation.
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Academic Article
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Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
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Academic Article
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Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers.
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Academic Article
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Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
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Academic Article
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Fragile X syndrome in a normal IQ male with learning and emotional problems.
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Academic Article
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Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
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Academic Article
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Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
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Academic Article
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Academic Article
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Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
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Academic Article
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BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.
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Academic Article
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Mutation update for the SATB2 gene.
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Academic Article
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Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.
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Academic Article
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Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
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Academic Article
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Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.
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Academic Article
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TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
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Academic Article
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Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation.
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Academic Article
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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
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Academic Article
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Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
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Academic Article
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The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
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