JOSEPH JANKOVIC to Mutation
This is a "connection" page, showing publications JOSEPH JANKOVIC has written about Mutation.
Connection Strength
2.233
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Clinical phenotype in carriers of intermediate alleles in the huntingtin gene. J Neurol Sci. 2019 Jul 15; 402:57-61.
Score: 0.245
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The Role of TMEM230 Gene in Parkinson's Disease. J Parkinsons Dis. 2018; 8(4):469-477.
Score: 0.223
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The VPS35 gene and Parkinson's disease. Mov Disord. 2013 May; 28(5):569-75.
Score: 0.160
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A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations. Arch Neurol. 2007 Mar; 64(3):421-4.
Score: 0.105
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Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome. Acta Neurol Scand. 2006 Dec; 114(6):400-2.
Score: 0.104
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Genetic analysis of LRRK2 mutations in patients with Parkinson disease. J Neurol Sci. 2006 Dec 21; 251(1-2):102-6.
Score: 0.103
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Genetic testing in Parkinson disease: promises and pitfalls. Arch Neurol. 2006 Sep; 63(9):1232-7.
Score: 0.102
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The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor. Neurosci Lett. 2006 Oct 23; 407(2):97-100.
Score: 0.102
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Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. Neurology. 2005 Aug 23; 65(4):651-2.
Score: 0.095
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G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. Acta Neurol Scand. 2005 Jun; 111(6):351-2.
Score: 0.093
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CADASIL: A NOTCH3-associated cerebral small vessel disease. J Adv Res. 2024 Dec; 66:223-235.
Score: 0.085
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Targeting a-Synuclein in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapeutics. Drugs. 2019 Jun; 79(8):797-810.
Score: 0.062
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The genetics of Parkinson disease. Ageing Res Rev. 2018 Mar; 42:72-85.
Score: 0.056
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ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. Parkinsonism Relat Disord. 2017 Aug; 41:37-43.
Score: 0.053
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Identification of TMEM230 mutations in familial Parkinson's disease. Nat Genet. 2016 07; 48(7):733-9.
Score: 0.050
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Genetics and molecular biology of brain calcification. Ageing Res Rev. 2015 Jul; 22:20-38.
Score: 0.046
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Bolivian kindred with combined spinocerebellar ataxia types 2 and 10. Acta Neurol Scand. 2015 Aug; 132(2):139-42.
Score: 0.046
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Genetic convergence of Parkinson's disease and lysosomal storage disorders. Mol Neurobiol. 2015; 51(3):1554-68.
Score: 0.044
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F-box only protein 7 gene in parkinsonian-pyramidal disease. JAMA Neurol. 2013 Jan; 70(1):20-4.
Score: 0.039
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Huntington's disease: how intermediate are intermediate repeat lengths? Mov Disord. 2012 Dec; 27(14):1714-7.
Score: 0.039
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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 2012 Jan 26; 1(1):2-12.
Score: 0.037
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Examination of the MSX1 gene in patients with Parkinson's disease. Acta Neurol Scand. 2009 Dec; 120(6):442-4.
Score: 0.032
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Genetic analysis of the NEUROG2 gene in patients with Parkinson's disease. Neurosci Lett. 2010 Jan 14; 468(3):195-7.
Score: 0.032
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The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease. Brain. 2008 Aug; 131(Pt 8):1969-78.
Score: 0.028
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Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease. Neurosci Lett. 2007 May 29; 419(2):104-7.
Score: 0.027
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Genetics of essential tremor. Brain. 2007 Jun; 130(Pt 6):1456-64.
Score: 0.026
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Premutation alleles associated with Parkinson disease and essential tremor. JAMA. 2004 Oct 13; 292(14):1685-6.
Score: 0.022
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The role of the PLA2G6 gene in neurodegenerative diseases. Ageing Res Rev. 2023 08; 89:101957.
Score: 0.020
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Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome. Arch Neurol. 2003 Apr; 60(4):502-3.
Score: 0.020
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord. 2023 02; 38(2):286-303.
Score: 0.020
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Mutations in NR4A2 associated with familial Parkinson disease. Nat Genet. 2003 Jan; 33(1):85-9.
Score: 0.020
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Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Mol Genet Genomic Med. 2019 07; 7(7):e00736.
Score: 0.015
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Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain. 2017 12 01; 140(12):3191-3203.
Score: 0.014
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Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease. Am J Med Genet. 1996 Dec 18; 66(3):281-6.
Score: 0.013
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Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. JAMA Neurol. 2016 Jan; 73(1):102-10.
Score: 0.012
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Mutation screening of the HTR2B gene in patients with Tourette syndrome. Neurosci Lett. 2012 Sep 27; 526(2):150-3.
Score: 0.010
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Resveratrol-activated AMPK/SIRT1/autophagy in cellular models of Parkinson's disease. Neurosignals. 2011; 19(3):163-74.
Score: 0.009
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GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients. Neurosci Lett. 2009 May 01; 454(3):209-11.
Score: 0.008
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A founding LRRK2 haplotype shared by Tunisian, US, European and Middle Eastern families with Parkinson's disease. Parkinsonism Relat Disord. 2008; 14(1):77-80.
Score: 0.007
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Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. Mov Disord. 2007 Jan; 22(1):55-61.
Score: 0.007
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Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR. Arch Neurol. 2001 Nov; 58(11):1879-82.
Score: 0.005