Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease
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Nicholas W. Wood | Thomas Gasser | John Hardy | Peter Heutink | Jose Bras | Christel Condroyer | Rita Guerreiro | A. Singleton | J. Hardy | R. Guerreiro | P. Heutink | A. Brice | N. Wood | S. Lesage | T. Gasser | E. Majounie | F. Tison | Monica Federoff | A. Nicolas | C. Condroyer | Alexis Brice | F. Cormier‐Dequaire | Suzanne Lesage | Andrew Singleton | François Tison | Florence Cormier-Dequaire | Aude Nicolas | Lee Darwent | Elisa Majounie | Monica Federoff | J. Bras | L. Darwent | Rita Guerreiro | Alexis Brice | Thomas Gasser | Lee Darwent | Andy Singleton | François Tison | Peter Heutink | N. Wood | Christel Condroyer | John Hardy
[1] D. Toniolo,et al. Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. , 2000, American journal of medical genetics.
[2] K. Õunap,et al. Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains , 2014, Human mutation.
[3] Erica F Andersen,et al. Xq28 duplication overlapping the int22h‐1/int22h‐2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability , 2014, American journal of medical genetics. Part A.
[4] J. Gécz,et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. , 2010, American journal of human genetics.
[5] P. Lockhart,et al. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. , 2014, American journal of human genetics.
[6] Haipeng Cheng,et al. Isolation and characterization of a human novel RAB (RAB39B) gene , 2002, Cytogenetic and Genome Research.
[7] E. Masliah,et al. Parkinson’s Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-Synuclein , 2015, Neuron.
[8] E. Masliah,et al. Parkinson’s Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-Synuclein , 2023, Neuron.