A. Bley

发表

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

E. Bertini, T. Strom, M. Zeviani, 2012, Brain : a journal of neurology.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Kerstin Kutsche, Jonas Denecke, D. Lessel, 2018, American journal of human genetics.

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course

W. Grodd, S. Groeschel, I. Krägeloh-Mann, 2011, Journal of Inherited Metabolic Disease.

Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations

F. Eichler, W. Grodd, A. Biffi, 2009, American Journal of Neuroradiology.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

S. Humphray, Z. Kingsbury, A. Vanderver, 2017, neurogenetics.

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

L. Schöls, I. Krägeloh-Mann, A. Rolfs, 2010, Brain and Development.

Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause

U. Löbel, B. Fiebig, A. Berger, 2021 .

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

B. Weschke, S. Groeschel, I. Krägeloh-Mann, 2016, JAMA neurology.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Martin A. M. Reijns, M. Nöthen, N. Hübner, 2015, The Journal of clinical investigation.

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy

G. Egger, C. Wiesinger, C. Seiser, 2020, Annals of clinical and translational neurology.

Use of monoclonal antibodies to assess expression of anaphylatoxin receptors in tubular epithelial cells of human, murine and rat kidneys.

D. Neumann, S. Schweyer, T. Tschernig, 2007, Immunobiology.

Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease

K. Nave, W. Möbius, J. Denecke, 2019, Acta Neuropathologica.

Natural History of Infantile GM2 Gangliosidosis

F. Eichler, C. Tifft, D. Hayden, 2011, Pediatrics.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

S. Humphray, Z. Kingsbury, A. Vanderver, 2017, neurogenetics.

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

M. S. van der Knaap, G. Bernard, R. La Piana, 2015, Neuropediatrics.

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

H. Lanfermann, J. Fiehler, Xiaoqi Ding, 2012, American journal of medical genetics. Part A.

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study

H. Lanfermann, Wenzhen Zhu, J. Fiehler, 2012, Journal of magnetic resonance imaging : JMRI.

POLR3A variants with striatal involvement and extrapyramidal movement disorder

I. Harting, P. Pouwels, I. Krägeloh-Mann, 2020, neurogenetics.

Review article Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

A. Rolfs, K. Brockmann, A. Kohlschütter, 2010 .

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy

B. Finckh, A. Kohlschütter, A. Bley, 2020, Neurodegenerative Diseases.

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

L. Schöls, S. Groeschel, P. Mol, 2022, Orphanet Journal of Rare Diseases.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

F. Eichler, J. Denecke, M. Hempel, 2021, Orphanet Journal of Rare Diseases.

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

S. Groeschel, I. Krägeloh-Mann, V. Gieselmann, 2014, Orphanet Journal of Rare Diseases.

Human Mutation

A. Vanderver, H. Brunner, P. Fockens, 2019 .

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study

H. Lanfermann, Wenzhen Zhu, J. Fiehler, 2012, Journal of magnetic resonance imaging : JMRI.

Newborn screening for metachromatic leukodystrophy in Northern Germany- a prospective study

Thomas P. Mechtler, R. Santer, B. Streubel, 2021, Molecular Genetics and Metabolism.

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

P. Waidhofer-Söllner, Andreas Gleiss, C. Casasnovas, 2023, EBioMedicine.