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Barbara Leube

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Disorders

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Chromosomes, Human, Pair 18

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TOP 3
Maike Busch; Barbara Leube; Ina Schanze; Anne Thiel; Manfred Beier; Brigitte Royer-Pokora
Evaluation of chromosome 11p imbalances in aniridia and wilms tumor patients.
Carsten Eggers; Gereon R Fink; Deniz Kahraman; Barbara Leube; Matthias Schmidt; Alexander E Volk; Lars Timmermann
Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.
Christian Johannes Hartmann; Barbara Leube; Lars Wojtecki; Beate Betz; Stefan Jun Groiss; Peter Bauer; Alfons Schnitzler; Martin Südmeyer
A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.

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All Publications

2013: Maike Busch; Barbara Leube; Ina Schanze; Anne Thiel; Manfred Beier; Brigitte Royer-Pokora
Evaluation of chromosome 11p imbalances in aniridia and wilms tumor patients.
American journal of medical genetics. Part A 2013;161(5):958-64.
2012: Carsten Eggers; Gereon R Fink; Deniz Kahraman; Barbara Leube; Matthias Schmidt; Alexander E Volk; Lars Timmermann
Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.
Parkinsonism & related disorders 2012;18(5):666-8.
2011: Christian Johannes Hartmann; Barbara Leube; Lars Wojtecki; Beate Betz; Stefan Jun Groiss; Peter Bauer; Alfons Schnitzler; Martin Südmeyer
A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.
Journal of neurology 2011;258(6):1186-8.
2008: Barbara Leube; Karin Hardt; Sebastian Portier; Bettina Westhoff; Marcus Jäger; Rüdiger Krauspe; Brigitte Royer-Pokora
Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?
Genetic testing 2008;12(1):129-33.
2007: Marcus Jäger; Bettina Westhoff; Sebastian Portier; Barbara Leube; Karin Hardt; Brigitte Royer-Pokora; Georg Gossheger; Rüdiger Krauspe
Clinical outcome and genotype in patients with hereditary multiple exostoses.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2007;25(12):1541-51.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Pokora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):541.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Pokora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):540.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Pokora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):540.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Pokora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):540.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Polora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):537.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Pokora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):537.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Polora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):536.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Moeslein; Brigitte Royer-Pokora
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.
Human genetics 2005;116(6):533.
2005: Valerie Schumacher; Tilman Vogel; Barbara Leube; Christiane Driemel; Timm Goecke; Gabriela Möslein; Brigitte Royer-Pokora
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
Journal of medical genetics 2005;42(5):428-35.
2004: Barbara Leube; R Huber; Timm Goecke; W Sandmann; B Royer-Pokora
SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.
Clinical genetics 2004;65(1):61-3.
2003: Barbara Leube; Frank Majewski; Jürgen Gebauer; Brigitte Royer-Pokora
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
American journal of medical genetics. Part A 2003;123A(3):296-300.
2003: Barbara Leube; Frank Majewski; Matthias Drechsler; Brigitte Royer-Pokora
Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.
Clinical dysmorphology 2003;12(4):261-5.
2002: Barbara Leube; Matthias Drechsler; Kristina Mühlmann; Reinhold Schäfer; Wolfgang A Schulz; Simeon Santourlidis; Aristotelis G Anastasiadis; Rolf Ackermann; Tapio Visakorpi; Wolfram Müller; Brigitte Royer-Pokora
Refined mapping of allele loss at chromosome 10q23-26 in prostate cancer.
The Prostate 2002;50(3):135-44.
1999: Paul R Jarman; N Del Grosso; Enza Maria Valente; Barbara Leube; E Cassetta; Anna Rita Bentivoglio; H M Waddy; Ryan Uitti; Demetrius M Maraganore; Alberto Albanese; Marina Frontali; Georg Auburger; Susan Bressman; Nicholas W Wood; TG Nygaard
Primary torsion dystonia: the search for genes is not over.
Journal of neurology, neurosurgery, and psychiatry 1999;67(3):395-7.
1999: Barbara Leube; Kirn R Kessler; A Ferbert; M Ebke; Günter Schwendemann; F Erbguth; Reiner Benecke; Georg Auburger
Phenotypic variability of the DYT1 mutation in German dystonia patients.
Acta neurologica Scandinavica 1999;99(4):248-51.
1998: Christian Lavedan; Stephanie Buchholtz; G Auburger; Roger L Albin; Aglaia Athanassiadou; Jan Blancato; J A Burguera; R E Ferrell; V Kostic; E Leroy; Barbara Leube; Luisa Mota-vieira; Thodoros Papapetropoulos; Margaret Pericak-Vance; J Pinkus; William Scott; G Ulm; J Vasconcelos; J J Vilchez; Robert L Nussbaum; Mihael H Polymeropoulos
Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.
DNA research : an international journal for rapid publication of reports on genes and genomes 1998;5(6):401-2.
1998: Barbara Leube; Georg Auburger
Questionable role of adult-onset focal dystonia among sporadic dystonia patients.
Annals of neurology 1998;44(6):984-5.
1998: E Leroy; RL Boyer; G Auburger; Barbara Leube; G Ulm; E Mezey; G Harta; M J Brownstein; S Jonnalagada; Tatiana A Chernova; AM Dehejia; Christian Lavedan; T Gasser; P J Steinbach; Keith Wilkinson; Mihael H Polymeropoulos
The ubiquitin pathway in Parkinson's disease.
Nature 1998;395(6701):451-2.
1997: Barbara Leube; Kirn R Kessler; Timm Goecke; Georg Auburger; Reiner Benecke
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family.
Movement disorders : official journal of the Movement Disorder Society 1997;12(6):1000-6.
1997: Barbara Leube; T Hendgen; Kirn R Kessler; M Knapp; Reiner Benecke; Georg Auburger
Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe.
American journal of medical genetics 1997;74(5):529-32.
1997: Barbara Leube; T Hendgen; Kirn R Kessler; M Knapp; Reiner Benecke; Georg Auburger
Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p.
Annals of neurology 1997;42(1):111-4.
1996: Barbara Leube; Dobrila D Rudnicki; T Ratzlaff; Kirn R Kessler; Reiner Benecke; Georg Auburger
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution.
Human molecular genetics 1996;5(10):1673-7.
1996: Georg Auburger; T Ratzlaff; A Lunkes; H W Nelles; Barbara Leube; F Binkofski; H Kugel; W Heindel; R Seitz; Reiner Benecke; O W Witte; T Voit
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.
Genomics 1996;31(1):90-4.