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scopus: 8065204700

Brice, A.

( A. Brice)


patient mutation disease sialic sialic acid family lrrk 2 study 2019ser parkinson fi ve patients carrier idiopathic pd university analysis c .1366c level symptom disorder idiopathic cafsa department neurology erasmus university rotterdam onset .1366c brain control lrrk 2-associated pd mutation carriers ataxia research 1 mrna levels cerebellar ataxia t mutation parkinsonism protein cerebellar frequency centre table institute cafsa patients estimate body fl uids sample method abnormality penetrance 1 mutations stage italian treatment consortium qsbb series neu 5ac metabolism elevation lrrk 2 mutations matter series group 1366 t allele sialic acid metabolism salla patients nerve 10 years sequencing allele fference individual salla genomic dna hospital early-onset erasmu scale neuropathy genomic london




4 Most Recent Publications

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA) (Article)
Mochel, F. Sedel, F. Kaneski, C.R. Verheijen, F.W. Smits, B.W. Seguin, F. Brice, A. Vanier, M.T. Huizing, M. Schiffmann, R. Durr, A. Wevers, R.A. Vanderver, A. Engelke, U.F.H. Barritault, J. Yang, B. Kulkarni, B. Adams, D.R. Clot, F. Ding, J-H.
2009-03-01
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study (Article)
Healy, D.G. Falchi, M. Ferreira, J.J. Tolosa, E. Kay, D.M. Klein, C. Williams, D.R. Marras, C. Lang, A.E. Wszolek, Z.K. Berciano, J. Schapira, A.H. O'Sullivan, S.S. Lynch, T. Bhatia, K.P. Gasser, T. Lees, A.J. Wood, N.W. Bonifati, V. Durr, A. Bressman, S. Brice, A. Aasly, J. Zabetian, C.P. Goldwurm, S.
2008-07-01
Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis (Article)
Grünewald, A. Breedveld, G.J. Lesage, S. Durr, A. Binkofski, F. Siebner, H. Münchau, A. Brice, A. Oostra, B.A. Klein, C. Bonifati, V. Lohmann-Hedrich, K. Rohe, C.F. König, I.R. Hagenah, J. Vanacore, N. Meco, G. Antonini, A. Goldwurm, S.
2007-04-01
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism (Article)
Bonifati, V. Squitieri, F. Rizzu, P. Krieger, E. Vanacore, N. Swieten, J.C. van Brice, A. Duijn, C.M. van Meco, G. Heutink, P. Oostra, B.A.
2003-10-01