Goebel HH - Search Results

1

Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes.

Gottlob I, Leipert KP, Kohlschütter A, Goebel HH. Gottlob I, et al. Among authors: goebel hh. Graefes Arch Clin Exp Ophthalmol. 1988;226(6):516-21. doi: 10.1007/BF02169198. Graefes Arch Clin Exp Ophthalmol. 1988. PMID: 3209078

2

Congenital fibrosis syndrome associated with central nervous system abnormalities.

Pieh C, Goebel HH, Engle EC, Gottlob I. Pieh C, et al. Among authors: goebel hh. Graefes Arch Clin Exp Ophthalmol. 2003 Jul;241(7):546-553. doi: 10.1007/s00417-003-0703-z. Epub 2003 Jun 18. Graefes Arch Clin Exp Ophthalmol. 2003. PMID: 12819981

3

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschütter A. Steinfeld R, et al. Among authors: goebel hh. Am J Med Genet. 2002 Nov 1;112(4):347-54. doi: 10.1002/ajmg.10660. Am J Med Genet. 2002. PMID: 12376936

4

Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: an interim report.

Kohlschütter A, Rauskolb R, Goebel HH, Anton-Lamprecht I, Albrecht R, Klein H. Kohlschütter A, et al. Among authors: goebel hh. Prenat Diagn. 1989 Apr;9(4):289-92. doi: 10.1002/pd.1970090408. Prenat Diagn. 1989. PMID: 2717534

5

[Juvenile neuronal ceroid lipofuscinosis: electro-ophthalmologic findings in heterozygotes].

Gottlob I, Goebel HH, Esser J, Leipert KP, Eckel G, Kühle HJ, Kohlschütter A. Gottlob I, et al. Among authors: goebel hh. Fortschr Ophthalmol. 1987;84(3):298-300. Fortschr Ophthalmol. 1987. PMID: 3623383 German. No abstract available.

6

Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992.

Kohlschütter A, Gardiner RM, Goebel HH. Kohlschütter A, et al. Among authors: goebel hh. J Inherit Metab Dis. 1993;16(2):241-4. doi: 10.1007/BF00710254. J Inherit Metab Dis. 1993. PMID: 8411970 Review. No abstract available.

7

Dementia in the neuronal ceroid-lipofuscinoses.

Goebel HH, Kohlschütter A. Goebel HH, et al. Adv Exp Med Biol. 2001;487:211-7. Adv Exp Med Biol. 2001. PMID: 11403161 No abstract available.

8

Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders.

Claussen M, Heim P, Knispel J, Goebel HH, Kohlschütter A. Claussen M, et al. Among authors: goebel hh. Am J Med Genet. 1992 Feb 15;42(4):536-8. doi: 10.1002/ajmg.1320420422. Am J Med Genet. 1992. PMID: 1609834

9

Progress in neuropathology of the neuronal ceroid lipofuscinoses.

Goebel HH, Schochet SS, Jaynes M, Brück W, Kohlschütter A, Hentati F. Goebel HH, et al. Mol Genet Metab. 1999 Apr;66(4):367-72. doi: 10.1006/mgme.1999.2808. Mol Genet Metab. 1999. PMID: 10191130 Review.

10

Diagnosis of the neuronal ceroid lipofuscinoses: an update.

Williams RE, Aberg L, Autti T, Goebel HH, Kohlschütter A, Lönnqvist T. Williams RE, et al. Among authors: goebel hh. Biochim Biophys Acta. 2006 Oct;1762(10):865-72. doi: 10.1016/j.bbadis.2006.07.001. Epub 2006 Jul 12. Biochim Biophys Acta. 2006. PMID: 16930952 Free article. Review.

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