Titel: Massively parallel sequencing of ataxia genes after array-based enrichment.
Auteur(s): Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA.
Tijdschrift: Human Mutation
Start- en eindpagina: 494 - 499
Titel: Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive cerebellar ataxia .
Auteur(s): Vermeer S, Hoischen A, Meijer RP, Gilissen G, Neveling K, Wieskamp N, de Brouwer A, Koenig M, AnheimM, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmuller H, Stevanin G, GoizetC, David A, Durr A, Brice A, Kremer B,4 van de Warrenburg BP, Schijvenaars MV, Heister A, Kwint M, Arts P, van der Wijst J, VeltmanJ, Kamsteeg E-J, Scheffer H, Knoers NV
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 0 - 0
Titel: Design and Validation of a Conformation Sensitive Capillary Electrophoresis-Based Mutation Scanning System and Automated Data Analysis of the More than 15 kbp-Spanning Coding Sequence of the SACS Gene.
Auteur(s): Vermeer S, Meijer RPP, Hofste TGJ, Bodmer D, Bosgoed EAJ, Cremers FPM, Kremer BHP, Knoers NVAM, Scheffer H.
Tijdschrift: Journal of Molecular Diagnostics
Start- en eindpagina: 514 - 523
Titel: ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia
Auteur(s): Sascha Vermeer, Rowdy P.P. Meijer, Benjamin J. Pijl, Janneke Timmermans, Johannes R.M. Cruysberg, Maaike M. Bos, Helenius J. Schelhaas, Bart P.C. van de Warrenburg, Nine V.A.M. Knoers, Hans Scheffer, Berry Kremer
Tijdschrift: Neurogenetics
Start- en eindpagina: 207 - 214
Titel: Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening
Auteur(s): Vermeer S, Kremer HP, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NA, Morava E, Lefeber DJ.
Tijdschrift: Journal of Neurology
Start- en eindpagina: 1356 - 1358
Titel: Klinisch en Genetisch onderzoek van EOCA
Titel: The identification of novel SACS mutations in a cohort of Dutch patients with spinocerebellar ataxia with polyneuropathy indicates a substantial underdiagnosis of ARSACS.
Titel: ARSACS in the Netherlands: A frequent cause of early onset cerebellar ataxia.
Titel: The Ataxia Protein Sacsin - Workshop 1
Titel: ARSACS in the Dutch population: A frequent cause of early onset cerebellar ataxia