Annette Bley
Dr. med.
Annette Bley
  • Functional senior physician
  • Medical Specialist in Pediatrics and Youth Medicine
Working area

Location

O45 , 1st Floor
Languages
German (Mother tongue)
English

Areas of expertise

Awards

Memberships

Publications

Zurück
  • 2020
  • 2019
  • 2018
  • 2017
  • 2016
  • 2015
  • 2014
Vor

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Rice G, Park S, Gavazzi F, Adang L, Ayuk L, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley A, Blumkin L, Boespflug-Tanguy O, Briggs T, Brimble E, Dale R, Darin N, Debray F, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly D, Lev D, Levrat V, Livingston J, Marti I, Mignot C, Mochel F, Nougues M, Oppermann I, Pérez-Dueñas B, Popp B, Rodero M, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson C, Zerem A, Zweier C, Zuberi S, Orcesi S, Vanderver A, Hur S, Crow Y
HUM MUTAT. 2020 [Epub ahead of print].

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf S, Berghoff S, Trevisiol A, Spieth L, Düking T, Schneider L, Schlaphoff L, Dreha-Kulaczewski S, Bley A, Burfeind D, Kusch K, Mitkovski M, Ruhwedel T, Guder P, Röhse H, Denecke J, Gärtner J, Möbius W, Nave K, Saher G
ACTA NEUROPATHOL. 2019;138(1):147-161.

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: 18.02.2020 - 06:27 Uhr