2024

Quantification of N-acetyl-L-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease
Posern C, Dreyer B, Maier S, Eichler F, Gelb M, Santer R, Bley A, Murko S
MOL GENET METAB. 2024;142(2):108489.

2023

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert M, Göpfert J, Heine A, Yska H, Casasnovas C, Cantarín V, Bergner C, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund T, Pujol A, Köhler W, Kühl J, Berger J
EBIOMEDICINE. 2023;96:104781.

2022

PIGN encephalopathy: Characterizing the epileptology
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand M, Jezela-Stanek A, Jouk P, Keren B, Kloth K, Kluger G, Kuhn M, Lemke J, Li H, Martinez F, Maxton C, Mefford H, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec L, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold E, Stegmann A, Stumpel C, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer I, Møller R, Sadleir L
EPILEPSIA. 2022;63(4):974-991.

2021

The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler F
ORPHANET J RARE DIS. 2021;16(1):227.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Pelletier F, Perrier S, Cayami F, Mirchi A, Saikali S, Tran L, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk R, Naidu S, Pohl D, Gibson W, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel B, Brais B, Sylvain M, Sebire G, Lourenço C, Bonkowsky J, Catsman-Berrevoets C, Pinto P, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko W, 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 M, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson G, Innes A, Kauffman M, Kirwin S, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton F, Moutton S, Murphy R, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The B, Popovic V, Rating D, Rioux M, Rodriguez Espinosa N, Ronan A, Ostergaard J, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos L, Stevens C, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg B, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster R, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap M, Vanderver A, Martos-Moreno G, Polychronakos C, Wolf N, Bernard G
J CLIN ENDOCR METAB. 2021;106(2):e660-e674.

2020

First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy
Kohlschütter A, Finckh B, Nickel M, Bley A, Hübner C
NEURODEGENER DIS. 2020;20(1):35-38.

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;41(4):837-849.

Vorinostat in the acute neuroinflammatory form of X-linked adrenoleukodystrophy
Zierfuss B, Weinhofer I, Kühl J, Köhler W, Bley A, Zauner K, Binder J, Martinović K, Seiser C, Hertzberg C, Kemp S, Egger G, Leitner G, Bauer J, Wiesinger C, Kunze M, Forss-Petter S, Berger J
ANN CLIN TRANSL NEUR. 2020;7(5):639-652.

2019

Correction to 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(4):673-674.

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.

2018

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.

2017

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.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Miyake N, Wolf N, Cayami F, Crawford J, Bley A, Bulas D, Conant A, Bent S, Gripp K, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie B, Lal D, Micha D, Pizzino A, Sinke R, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft R, Ogata T, Ozono K, Matsumoto N, Neubauer B, Simons C, Vanderver A
NEUROGENETICS. 2017;18(4):185-194.

2016

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.

2015

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.

2014

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.

2012

Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation.
Ding X, Bley A, Kohlschütter A, Fiehler J, Lanfermann H
AM J MED GENET A. 2012;158A(1):257-60.

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.
Ding X, Bley A, Ohlenbusch A, Kohlschütter A, Fiehler J, Zhu W, Lanfermann H
J MAGN RESON IMAGING. 2012;35(4):926-932.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Steenweg M, Ghezzi D, Haack T, Abbink T, Martinelli D, van Berkel C, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom T, Bertini E, Prokisch H, van der Knaap M, Zeviani M
BRAIN. 2012;135(Pt 5):1387-94.

2011

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
Groeschel S, Kehrer C, Engel C, I Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I
J INHERIT METAB DIS. 2011;34(5):1095-102.

2010

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults
Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krägeloh-Mann I, Rolfs A, Schöls L
BRAIN DEV-JPN. 2010;32(2):82-89.

2007

Use of monoclonal antibodies to assess expression of anaphylatoxin receptors in tubular epithelial cells of human, murine and rat kidneys
Kiafard Z, Tschernig T, Schweyer S, Bley A, Neumann D, Zwirner J
IMMUNOBIOLOGY. 2007;212(2):129-39.

Letzte Aktualisierung aus dem FIS: 20.11.2024 - 23:32 Uhr