Kohlschütter A - Search Results

1

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pages A, Abicht A. Köhler C, et al. Among authors: kohlschutter a. Mol Cell Probes. 2015 Oct;29(5):319-22. doi: 10.1016/j.mcp.2015.06.005. Epub 2015 Aug 29. Mol Cell Probes. 2015. PMID: 26327357

2

Unexplained loss of vision in a child: consider bilateral primary optic nerve sheath meningioma.

Nickel M, Löbel U, Holst B, Kammler G, Matschke J, Schulz A, Kohlschütter A. Nickel M, et al. Among authors: kohlschutter a. Neuropediatrics. 2014 Oct;45(5):321-4. doi: 10.1055/s-0034-1372303. Epub 2014 Apr 3. Neuropediatrics. 2014. PMID: 24700154

3

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy.

Löbel U, Schweser F, Nickel M, Deistung A, Grosse R, Hagel C, Fiehler J, Schulz A, Hartig M, Reichenbach JR, Kohlschütter A, Sedlacik J. Löbel U, et al. Among authors: kohlschutter a. Ann Clin Transl Neurol. 2014 Dec;1(12):1041-6. doi: 10.1002/acn3.116. Epub 2014 Dec 2. Ann Clin Transl Neurol. 2014. PMID: 25574478 Free PMC article.

4

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression.

Löbel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschütter A, Schulz A. Löbel U, et al. Among authors: kohlschutter a. AJNR Am J Neuroradiol. 2016 Oct;37(10):1938-1943. doi: 10.3174/ajnr.A4816. Epub 2016 May 26. AJNR Am J Neuroradiol. 2016. PMID: 27231226 Free PMC article.

5

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A. Finckh U, et al. Among authors: kohlschutter a. Hum Mutat. 1998;12(3):206-11. doi: 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9711878

6

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M. Sarpong A, et al. Among authors: kohlschutter a. Clin Genet. 2009 Jul;76(1):38-45. doi: 10.1111/j.1399-0004.2009.01179.x. Epub 2009 May 21. Clin Genet. 2009. PMID: 19489875

7

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.

8

Altered levels of high-energy phosphate compounds in fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondrial involvement.

Das AM, von Harlem R, Feist M, Lücke T, Kohlschütter A. Das AM, et al. Among authors: kohlschutter a. Eur J Paediatr Neurol. 2001;5 Suppl A:143-6. doi: 10.1053/ejpn.2000.0451. Eur J Paediatr Neurol. 2001. PMID: 11588986

9

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.

10

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.

Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A. Lebrun AH, et al. Among authors: kohlschutter a. Mol Med. 2011;17(11-12):1253-61. doi: 10.2119/molmed.2010.00241. Epub 2011 Aug 18. Mol Med. 2011. PMID: 21863212 Free PMC article.

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