Kohlschütter A - Search Results

1

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. Kohlschütter A, et al. Brain Dev. 2010 Feb;32(2):82-9. doi: 10.1016/j.braindev.2009.03.014. Epub 2009 May 7. Brain Dev. 2010. PMID: 19427149 Review.

2

[Leukodystrophies: diseases of white matter of the nervous system].

Gärtner J, Kohlschütter A, Gieselmann V. Gärtner J, et al. Among authors: kohlschutter a. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007 Dec;50(12):1531-40. doi: 10.1007/s00103-007-0388-2. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007. PMID: 18026884 Review. German.

3

Identification of ten novel mutations in patients with eIF2B-related disorders.

Ohlenbusch A, Henneke M, Brockmann K, Goerg M, Hanefeld F, Kohlschütter A, Gärtner J. Ohlenbusch A, et al. Among authors: kohlschutter a. Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9325. Hum Mutat. 2005. PMID: 15776425

4

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: kohlschutter a. JAMA Neurol. 2016 Sep 1;73(9):1133-40. doi: 10.1001/jamaneurol.2016.2067. JAMA Neurol. 2016. PMID: 27400410

5

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; German LEUKONET. Kehrer C, et al. Among authors: kohlschutter a. Orphanet J Rare Dis. 2014 Feb 5;9:18. doi: 10.1186/1750-1172-9-18. Orphanet J Rare Dis. 2014. PMID: 24499656 Free PMC article.

6

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. Kohlschütter A, et al. Neurodegener Dis. 2020;20(1):35-38. doi: 10.1159/000508080. Epub 2020 Jul 3. Neurodegener Dis. 2020. PMID: 32623435

7

Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.

Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J. Henneke M, et al. Among authors: kohlschutter a. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732

8

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

Ding XQ, Bley A, Ohlenbusch A, Kohlschütter A, Fiehler J, Zhu W, Lanfermann H. Ding XQ, et al. Among authors: kohlschutter a. J Magn Reson Imaging. 2012 Apr;35(4):926-32. doi: 10.1002/jmri.23517. Epub 2011 Nov 29. J Magn Reson Imaging. 2012. PMID: 22128017

9

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 FS. Bley A, et al. Among authors: kohlschutter a. Orphanet J Rare Dis. 2021 May 19;16(1):227. doi: 10.1186/s13023-020-01659-3. Orphanet J Rare Dis. 2021. PMID: 34011350 Free PMC article.

10

Towards understanding the neuronal ceroid lipofuscinoses.

Kohlschütter A, Schulz A. Kohlschütter A, et al. Brain Dev. 2009 Aug;31(7):499-502. doi: 10.1016/j.braindev.2008.12.008. Epub 2009 Feb 4. Brain Dev. 2009. PMID: 19195801 Review.

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