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Sascha Vermeer

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S T de Bot; Erik-Jan Kamsteeg; H P H Kremer; A R Mensenkamp; Hans Scheffer; Leonard H Van den Berg; Jan Veldink; Sascha Vermeer; Frans Brugman; Bart P C van de Warrenburg
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
Willem M A Verhoeven; Sascha Vermeer; Amir I M Ahmed; Jos I M Egger; Berry P H Kremer; Bart P C van de Warrenburg
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
Sascha Vermeer; M A A P Willemsen; M Cluitmans; Berry Kremer; Hans Scheffer; Bart P C van de Warrenburg; Nine V A M Knoers
Autosomal recessive cerebellar ataxias: the current state of affairs.

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All Publications

2013: S T de Bot; Erik-Jan Kamsteeg; H P H Kremer; A R Mensenkamp; Hans Scheffer; Leonard H Van den Berg; Jan Veldink; Sascha Vermeer; Frans Brugman; Bart P C van de Warrenburg
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
Journal of neurology 2013;260(3):869-75.
2012: Willem M A Verhoeven; Sascha Vermeer; Amir I M Ahmed; Jos I M Egger; Berry P H Kremer; Bart P C van de Warrenburg
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
Psychopathology 2012;45(3):193-9.
2011: Sascha Vermeer; M A A P Willemsen; M Cluitmans; Berry Kremer; Hans Scheffer; Bart P C van de Warrenburg; Nine V A M Knoers
Autosomal recessive cerebellar ataxias: the current state of affairs.
Journal of medical genetics 2011;48(10):651-9.
2010: Sascha Vermeer; Alexander Hoischen; Rowdy P P Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P C van de Warrenburg; Mascha M V A P Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine V A M Knoers
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
American journal of human genetics 2010;87(6):813-9.
2010: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris Veltman
Massively parallel sequencing of ataxia genes after array-based enrichment.
Human mutation 2010;31(4):494-9.
2009: Sascha Vermeer; Rowdy P P Meijer; Tom G J Hofste; Daniëlle Bodmer; Ermanno A J Bosgoed; Frans P M Cremers; Berry H P Kremer; Nine V A M Knoers; Hans Scheffer
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.
The Journal of molecular diagnostics : JMD 2009;11(6):514-23.
2009: J H M Schuurs-Hoeijmakers; Sascha Vermeer; B W M van Bon; Rolph Pfundt; Carlo L M Marcelis; Arjan de Brouwer; Nicole de Leeuw; Bert B A de Vries
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.
Journal of medical genetics 2009;46(6):421-3.
2008: Brigitte H W Faas; Willy Nillesen; Sascha Vermeer; Daniel Olde Weghuis; Nicole de Leeuw; Arie P T Smits; Conny van Ravenswaaij-Arts
Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.
European journal of medical genetics 2008;51(6):511-9.
2008: Sascha Vermeer; Rowdy P P Meijer; Benjamin J Pijl; Janneke Timmermans; J R M Cruysberg; Maaike M Bos; H Jurgen Schelhaas; Bart P C van de Warrenburg; Nine V A M Knoers; Hans Scheffer; Berry Kremer
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Neurogenetics 2008;9(3):207-14.
2007: Sascha Vermeer; David A Koolen; Gepke Visser; Hein J L Brackel; Ineke van der Burgt; Nicole de Leeuw; Michèl A A P Willemsen; Erik A Sistermans; Rolph Pfundt; Bert B A de Vries
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.
Developmental medicine and child neurology 2007;49(5):380-4.
2005: Sascha Vermeer; Cor G van Oostrom; Carla Boetes; Aad Verrips; Nine V A M Knoers
A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations.
Clinical dysmorphology 2005;14(4):203-6.
2004: David A Koolen; Willy M Nillesen; Martina H A Versteeg; Gerard F M Merkx; Nine V A M Knoers; M Kets; Sascha Vermeer; Conny van Ravenswaaij-Arts; Carolien G F de Kovel; Han G Brunner; Dominique Smeets; Bert B A de Vries; Erik A Sistermans
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
Journal of medical genetics 2004;41(12):892-9.
2004: Sascha Vermeer; Aad Verrips; Michèl A A P Willemsen; Henk ter Laak; Ieke B Ginjaar; Ben C J Hamel
Novel mutations in three patients with LGMD2C with phenotypic differences.
Pediatric neurology 2004;30(4):291-4.