Wolf NI - Search Results

1

Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation.

Wolf NI, Krämer N, Harting I, Seitz A, Ebinger F, Pöschl J, Rating D. Wolf NI, et al. AJNR Am J Neuroradiol. 2005 Jun-Jul;26(6):1580-2. AJNR Am J Neuroradiol. 2005. PMID: 15956533 Free PMC article.

2

Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?

Wolf NI, Harting I, Hartmann M, Aschoff A, Sommer C, Rating D, Ebinger F. Wolf NI, et al. Dev Med Child Neurol. 2003 Aug;45(8):568-70. doi: 10.1017/s0012162203001038. Dev Med Child Neurol. 2003. PMID: 12882537 Free article.

3

New pattern of brain MRI lesions in isolated complex I deficiency.

Wolf NI, Seitz A, Harting I, Smeitink JA, Trijbels F, van den Heuvel LP, Schlemmer H, Ebinger F, Evert W, Rating D. Wolf NI, et al. Neuropediatrics. 2003 Jun;34(3):156-9. doi: 10.1055/s-2003-41277. Neuropediatrics. 2003. PMID: 12910441

4

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Wolf NI, et al. Neurology. 2004 May 11;62(9):1503-8. doi: 10.1212/01.wnl.0000123094.13406.20. Neurology. 2004. PMID: 15136672

5

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D. Wolf NI, et al. J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e. J Inherit Metab Dis. 2004. PMID: 15243989

6

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.

Schwab MA, Kölker S, van den Heuvel LP, Sauer S, Wolf NI, Rating D, Hoffmann GF, Smeitink JA, Okun JG. Schwab MA, et al. Among authors: wolf ni. Clin Chem. 2005 Jan;51(1):151-60. doi: 10.1373/clinchem.2004.033852. Epub 2004 Nov 18. Clin Chem. 2005. PMID: 15550478

7

T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome.

Harting I, Blaschek A, Wolf NI, Seitz A, Haupt M, Goebel HH, Rating D, Sartor K, Ebinger F. Harting I, et al. Among authors: wolf ni. Neurology. 2004 Dec 28;63(12):2448-9. doi: 10.1212/01.wnl.0000147324.74071.3e. Neurology. 2004. PMID: 15623732 No abstract available.

8

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T, Martin E, Zschocke J, Uhlenberg B, Hoffmann GF, Weber L, Ebinger F, Rating D. Wolf NI, et al. Neurology. 2005 Apr 26;64(8):1461-4. doi: 10.1212/01.WNL.0000158615.56071.E3. Neurology. 2005. PMID: 15851747

9

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Among authors: wolf ni. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977

10

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, Woodward KJ. Wolf NI, et al. Neurogenetics. 2007 Jan;8(1):39-44. doi: 10.1007/s10048-006-0062-0. Epub 2006 Sep 13. Neurogenetics. 2007. PMID: 16969684

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