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Fuat Aksu

Research Profile

Concepts & Ideas

Disorders

Geographic Areas

Turkey

Physiology

Phenotype

Chemicals & Drugs

Anatomy

Chromosomes, Human, Pair 4

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Publications

TOP 3
Angela M Kaindl; Sibylle Jakubiczka; Thomas Lücke; Oliver Bartsch; Joachim Weis; Gisela Stoltenburg-Didinger; Fuat Aksu; Konrad Oexle; Katrin Koehler; Angela Huebner
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.
Marco Henneke; Natalie Preuss; V Engelbrecht; Fuat Aksu; E Bertini; Genila Bibat; Knut Brockmann; Christoph Hübner; M Mayer; Vlatka Mejaski-Bosnjak; Sakkubai Naidu; Eva Neumaier-Probst; D Rodriguez; W Weisz; Alfried Kohlschuetter; Jutta Gärtner
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Birgit Uhlenberg; Markus Schuelke; Franz Rüschendorf; Nico Ruf; Angela M Kaindl; Marco Henneke; Holger Thiele; Gisela Stoltenburg-Didinger; Fuat Aksu; Haluk Topaloğlu; Peter Nürnberg; Christoph Hübner; Bernhard Weschke; Jutta Gärtner
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

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All Publications

2005: Angela M Kaindl; Sibylle Jakubiczka; Thomas Lücke; Oliver Bartsch; Joachim Weis; Gisela Stoltenburg-Didinger; Fuat Aksu; Konrad Oexle; Katrin Koehler; Angela Huebner
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.
Human mutation 2005;26(3):279-80.
2005: Marco Henneke; Natalie Preuss; V Engelbrecht; Fuat Aksu; E Bertini; Genila Bibat; Knut Brockmann; Christoph Hübner; M Mayer; Vlatka Mejaski-Bosnjak; Sakkubai Naidu; Eva Neumaier-Probst; D Rodriguez; W Weisz; Alfried Kohlschuetter; Jutta Gärtner
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Neurology 2005;64(8):1411-6.
2004: Birgit Uhlenberg; Markus Schuelke; Franz Rüschendorf; Nico Ruf; Angela M Kaindl; Marco Henneke; Holger Thiele; Gisela Stoltenburg-Didinger; Fuat Aksu; Haluk Topaloğlu; Peter Nürnberg; Christoph Hübner; Bernhard Weschke; Jutta Gärtner
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
American journal of human genetics 2004;75(2):251-60.
1998: M Olivier; Hans-Gerd Lenard; Fuat Aksu; Jutta Gärtner
A new leukoencephalopathy with bilateral anterior temporal lobe cysts.
Neuropediatrics 1998;29(5):225-8.

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