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Gomez, Christopher M.
One or more keywords matched the following items that are connected to Gomez, Christopher M.
Item TypeName
Concept Alleles
Concept Amino Acid Sequence
Concept Base Sequence
Concept Genes, Dominant
Concept Genes
Concept Genes, Recessive
Concept Molecular Sequence Data
Concept Repetitive Sequences, Nucleic Acid
Concept Genome
Concept Trinucleotide Repeat Expansion
Concept Nuclear Localization Signals
Concept Sequence Analysis, DNA
Concept Transgenes
Concept Exome
Concept DNA Repeat Expansion
Concept Conserved Sequence
Concept Sequence Analysis, RNA
Concept Genetic Loci
Academic Article A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Academic Article WDR81 is necessary for purkinje and photoreceptor cell survival.
Academic Article Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.
Academic Article Clinical exome sequencing: the new standard in genetic diagnosis.
Academic Article A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.
Academic Article The conserved RING-H2 finger of ROC1 is required for ubiquitin ligation.
Academic Article Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
Academic Article The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.
Academic Article Restricted use of T cell receptor V genes in murine autoimmune encephalomyelitis raises possibilities for antibody therapy.
Academic Article Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.
Academic Article Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.
Academic Article Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
Academic Article Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
Academic Article FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
Academic Article Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Academic Article Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.
Academic Article De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Search Criteria
  • Exome
  • sequencing