Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms F, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K
AM J HUM GENET. 2018;103(4):579-591.

The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature
Bohnenpoll J, Eichler F, Schoen G, Hischke S, Denecke J, Hempel M, Kohlschütter A, Bley A
NEUROPEDIATRICS. 2017;48(S 01):26.

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Groeschel S, Kühl J, Bley A, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I
JAMA NEUROL. 2016;73(9):1133-40.

POLR3A and POLR3B Mutations in Unclassified Hypomyelination
Cayami F, La Piana R, van Spaendonk R, Nickel M, Bley A, Guerrero K, Tran L, van der Knaap M, Bernard G, Wolf N
NEUROPEDIATRICS. 2015;46(3):221-7.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
Günther C, Kind B, Reijns M, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee Y, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell K, Ramantani G, Bauerfeind A, Morris D, Cunninghame Graham D, Bubeck D, Leitch A, Ralston S, Blackburn E, Gahr M, Witte T, Vyse T, Melchers I, Mangold E, Nöthen M, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs J, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme M, Jackson A, Lee-Kirsch M
J CLIN INVEST. 2015;125(1):413-424.

Demenzerkrankungen bei Kindern und Jugendlichen
Kohlschütter A, Schulz A, Bley A, Nickel M, Richterich A
Päd Praxis. 2015;83:561-570.

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, Bley A, Steinfeld R, Gieselmann V, Krägeloh-Mann I
ORPHANET J RARE DIS. 2014;9:18.

Letzte Aktualisierung aus dem FIS: 10.12.2018 - 00:31 Uhr