| Item Type | Name |
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Concept
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Adaptor Proteins, Signal Transducing
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|
Concept
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Vesicular Transport Proteins
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Concept
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DNA-Binding Proteins
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|
Concept
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Matrix Attachment Region Binding Proteins
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Concept
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Membrane Transport Proteins
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|
Concept
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LIM Domain Proteins
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Concept
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Homeodomain Proteins
|
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Concept
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Neurofilament Proteins
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Concept
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Carrier Proteins
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Concept
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Mitochondrial Proteins
|
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Concept
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ras Proteins
|
|
Concept
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Contractile Proteins
|
|
Concept
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Nuclear Proteins
|
|
Concept
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Recombinant Proteins
|
|
Concept
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Neoplasm Proteins
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Concept
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Drosophila Proteins
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Concept
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Microfilament Proteins
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Concept
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Intracellular Signaling Peptides and Proteins
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|
Concept
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Plasma Membrane Neurotransmitter Transport Proteins
|
|
Concept
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Nerve Tissue Proteins
|
|
Concept
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Tumor Suppressor Proteins
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|
Concept
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RNA-Binding Proteins
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|
Concept
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Zebrafish Proteins
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|
Concept
|
Serotonin Plasma Membrane Transport Proteins
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Academic Article
|
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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Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a 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
|
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
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Academic Article
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
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Academic Article
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Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.
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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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Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
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Academic Article
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Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.
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Academic Article
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Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
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Academic Article
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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
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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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Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.
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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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Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.
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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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CDKL5 and ARX mutations in males with early-onset epilepsy.
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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
|
Variable human phenotype associated with novel deletions of the PHOX2B gene.
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Academic Article
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
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Academic Article
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Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
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Academic Article
|
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
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Academic Article
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Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
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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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Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
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Academic Article
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
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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
|
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
|
Sudden Infant Death Syndrome: review of implicated genetic factors.
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Academic Article
|
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
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Academic Article
|
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
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|
Academic Article
|
Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
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Academic Article
|
3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
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Academic Article
|
In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
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Academic Article
|
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
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Academic Article
|
Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
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Academic Article
|
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
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Academic Article
|
Methylation analysis of the fragile X syndrome by PCR.
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Academic Article
|
Aging in individuals with the FMR1 mutation.
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|
Academic Article
|
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
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Academic Article
|
Epilepsy in fragile X syndrome.
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Academic Article
|
Stable expression and heterologous coupling of the kappa opioid receptor in cell lines of neural and nonneural origin.
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|
Academic Article
|
Neuromodulator-mediated phosphorylation of specific proteins in a neurotumor hybrid cell line (NCB-20).
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Academic Article
|
Fragile X syndrome in a normal IQ male with learning and emotional problems.
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Academic Article
|
Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
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Academic Article
|
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Academic Article
|
Development of genomic reference materials for Huntington disease genetic testing.
|
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Academic Article
|
Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
|
|
Academic Article
|
Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells.
|
|
Academic Article
|
Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.
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|
Academic Article
|
Mutation update for the SATB2 gene.
|
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Academic Article
|
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
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Academic Article
|
TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
|
|
Academic Article
|
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
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|
Academic Article
|
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
|
|
Academic Article
|
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
|
|
Academic Article
|
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
|
|
Academic Article
|
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
|
|
Academic Article
|
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
|