Krägeloh-Mann I - Search Results

1

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.

Schicks J, Müller Vom Hagen J, Bauer P, Beck-Wödl S, Biskup S, Krägeloh-Mann I, Schöls L, Synofzik M. Schicks J, et al. Neurology. 2013 Mar 19;80(12):1169-70. doi: 10.1212/WNL.0b013e31828869f9. Epub 2013 Feb 20. Neurology. 2013. PMID: 23427322 No abstract available.

2

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krägeloh-Mann I. Harzer K, et al. Neuropediatrics. 2003 Dec;34(6):301-6. doi: 10.1055/s-2003-44668. Neuropediatrics. 2003. PMID: 14681755

3

Clinical findings in Niemann-Pick disease type B.

Müssig K, Harzer K, Mayrhofer H, Krägeloh-Mann I, Häring HU, Machicao F. Müssig K, et al. Intern Med J. 2006 Feb;36(2):135-6. doi: 10.1111/j.1445-5994.2005.01013.x. Intern Med J. 2006. PMID: 16472269 No abstract available.

4

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.

5

Lesions in early cerebellar development--do they matter?

Krägeloh-Mann I. Krägeloh-Mann I. Dev Med Child Neurol. 2010 Aug;52(8):694. doi: 10.1111/j.1469-8749.2009.03549.x. Epub 2010 Jan 5. Dev Med Child Neurol. 2010. PMID: 20059513 Free article. No abstract available.

6

L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults.

Weimar C, Schlamann M, Krägeloh-Mann I, Schöls L. Weimar C, et al. Clin Neurol Neurosurg. 2013 Jun;115(6):765-6. doi: 10.1016/j.clineuro.2012.06.040. Epub 2012 Jul 25. Clin Neurol Neurosurg. 2013. PMID: 22840416 No abstract available.

7

Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients.

Müller Vom Hagen J, Synofzik M, Schicks J, Krägeloh-Mann I, Schöls L. Müller Vom Hagen J, et al. Mov Disord. 2013 Dec;28(14):2033-5. doi: 10.1002/mds.25617. Epub 2013 Aug 7. Mov Disord. 2013. PMID: 23926051 No abstract available.

8

Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.

Müller vom Hagen J, Karle KN, Schüle R, Krägeloh-Mann I, Schöls L. Müller vom Hagen J, et al. Eur J Neurol. 2014 Jul;21(7):983-8. doi: 10.1111/ene.12423. Epub 2014 Apr 2. Eur J Neurol. 2014. PMID: 24698313

9

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Synofzik M, Schüle R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krägeloh-Mann I, Gonzalez M, Young P, Züchner S, Schöls L, Bauer P. Synofzik M, et al. Orphanet J Rare Dis. 2014 Apr 17;9:57. doi: 10.1186/1750-1172-9-57. Orphanet J Rare Dis. 2014. PMID: 24742043 Free PMC article.

10

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.

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