-R R Frants Researcher Activity Profile

Research Author Detailed Information 

R R Frants Publication Rate By Year

R R Frants has published 2 paper(s) in 1987, 2 paper(s) in 1996, 2 paper(s) in 1999, 1 paper(s) in 2001, 1 paper(s) in 2002, 1 paper(s) in 2003, 2 paper(s) in 2004, 2 paper(s) in 2005, 18 paper(s) in 2007, 2 paper(s) in 2008, for a total of 33 research publications in total.

R R Rr Frants Author Information

LAST NAME: frants

FIRST NAME: R R

INITIALS: rr

AFFILIATION:

Papers

R R Frants's Publication Record

1. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Year Published: 2007
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
2. Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. Year Published: 2007
Departments of Human Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands.
3. Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. Year Published: 2007
Departments of Human Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands.
4. Genetic polymorphisms in serum and erythrocytes of the Bashkirs. Year Published: 1987
5. Studies on hair pigmentation and blood groups in the Bashkirs. Year Published: 1987
6. Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. Year Published: 2004
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
7. Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. Year Published: 2007
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
8. Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. Year Published: 2008
9. Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. Year Published: 2004
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
10. Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. Year Published: 2007
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
11. Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. Year Published: 2001
Department of Neurology, Leiden University Medical Centre, The Netherlands.
12. No involvement of the calcium channel gene (CACNA1A) in a family with cluster headache. Year Published: 2002
Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands. jhaan@rijnland.nl
13. Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG. Year Published: 1996
Department of Neurology, Leiden University Hospital, The Netherlands.
14. Is familial hemiplegic migraine a hereditary form of basilar migraine? Year Published: 1996
Department of Neurology, University Hospital Leiden, Netherlands.
15. Search for mitochondrial DNA mutations in migraine subgroups. Year Published: 1999
Department of Neurology, Leiden University Medical Centre, The Netherlands.
16. The use of isolates in migraine genetic research. Year Published: 1999
Department of Human Genetics, Leiden University Medical Center, The Netherlands.
17. The 3p21.1-p21.3 hereditary vascular retinopathy locus increases the risk for Raynaud's phenomenon and migraine. Year Published: 2005
Department of Human Genetics, Leiden University Medical Centre, Leiden, and Department of Neurology, Rijnland Hospital, Leiderdorp, The Netherlands.
18. [Gene diagnosis of facioscapulohumeral muscular dystrophy] Year Published: 2003
Institute of Geriatrics and Gerontology, Beijing, 100853 PR China. zjlphd@hotmail.com
19. -455G/A polymorphism and preprocedural plasma levels of fibrinogen show no association with the risk of clinical restenosis in patients with coronary stent placement. Year Published: 2005
Department of Cardiology, Leiden University Medical Center, The Netherlands. J.W.Jukema@lumc.nl
20. Facioscapulohumeral muscular dystrophy. Year Published: 2007
Leiden University Medical Center (LUMC), Department of Human Genetics, Postal zone S-3-P, PO box 9600, 2300 RC Leiden, The Netherlands. maarel@lumc.nl
21. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Year Published: 2007
Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands. s.vankoningsbruggen@dundee.ac.uk
22. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. Year Published: 2007
Center for Human and Clinical Genetics, Leiden Univesity Medical Center, Leiden, The Netherlands.
23. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Year Published: 2007
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
24. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Year Published: 2007
Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
25. The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglycerides. Year Published: 2007
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. cmoen@lumc.nl
26. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Year Published: 2007
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
27. Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. Year Published: 2007
28. The influence of established genetic variation in the haemostatic system on clinical restenosis after percutaneous coronary interventions. Year Published: 2007
Leiden University Medical Center, Department of Cardiology, C5-P, Albinusdreef 2, P.O. Box 9600, 2300 RC Leiden, The Netherlands. E-mail: J.W.Jukema@lumc.nl.
29. The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglycerides. Year Published: 2007
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. cmoen@lumc.nl
30. Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. Year Published: 2007
31. The influence of established genetic variation in the haemostatic system on clinical restenosis after percutaneous coronary interventions. Year Published: 2007
Leiden University Medical Center, Department of Cardiology, C5-P, Albinusdreef 2, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
32. Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. Year Published: 2007
Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
33. Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice. Year Published: 2008
Department of Neurology, Leiden University Medical Center, NL-2300 RC, Leiden, The Netherlands.