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Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S. Laugwitz L, et al. Among authors: bley a. Eur J Paediatr Neurol. 2024 Mar;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Epub 2024 Mar 9. Eur J Paediatr Neurol. 2024. PMID: 38554683 Free article.
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.
Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I. Eichler F, et al. Among authors: bley a. AJNR Am J Neuroradiol. 2009 Nov;30(10):1893-7. doi: 10.3174/ajnr.A1739. Epub 2009 Oct 1. AJNR Am J Neuroradiol. 2009. PMID: 19797797 Free PMC article.
Natural history of infantile G(M2) gangliosidosis.
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Bley AE, et al. Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24. Pediatrics. 2011. PMID: 22025593 Free PMC article.
POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI. Cayami FK, et al. Among authors: bley a. Neuropediatrics. 2015 Jun;46(3):221-8. doi: 10.1055/s-0035-1550148. Epub 2015 May 8. Neuropediatrics. 2015. PMID: 26011300
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.
Groeschel S, Kühl JS, Bley AE, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I. Groeschel S, et al. Among authors: bley ae. JAMA Neurol. 2016 Sep 1;73(9):1133-40. doi: 10.1001/jamaneurol.2016.2067. JAMA Neurol. 2016. PMID: 27400410
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, 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 DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: bley ae. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk RML, Vreeburg M, Rodríguez-Palmero A, Pujol A, van der Knaap MS, Pouwels PJW, Wolf NI. Harting I, et al. Among authors: bley a. Neurogenetics. 2020 Apr;21(2):121-133. doi: 10.1007/s10048-019-00602-4. Epub 2020 Jan 15. Neurogenetics. 2020. PMID: 31940116 Free PMC article.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: bley a. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
49 results