Hübner C - Search Results

1

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy.

Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A. Schuelke M, et al. Among authors: hubner c. Neurology. 2000 Nov 28;55(10):1584-6. doi: 10.1212/wnl.55.10.1584. Neurology. 2000. PMID: 11094124

2

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.

Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, Hübner C, Finckh B. Schuelke M, et al. Among authors: hubner c. J Pediatr. 1999 Feb;134(2):240-4. doi: 10.1016/s0022-3476(99)70424-5. J Pediatr. 1999. PMID: 9931538

3

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. Among authors: hubner c. Neurodegener Dis. 2020;20(1):35-38. doi: 10.1159/000508080. Epub 2020 Jul 3. Neurodegener Dis. 2020. PMID: 32623435

4

Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency.

Kohlschütter A, Mayatepek E, Finckh B, Hübner C. Kohlschütter A, et al. Among authors: hubner c. J Inherit Metab Dis. 1997 Aug;20(4):581-6. doi: 10.1023/a:1005311227094. J Inherit Metab Dis. 1997. PMID: 9266396 Clinical Trial.

5

Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients.

Schuelke M, Elsner A, Finckh B, Kohlschütter A, Hübner C, Brigelius-Flohé R. Schuelke M, et al. Among authors: hubner c. J Lipid Res. 2000 Oct;41(10):1543-51. J Lipid Res. 2000. PMID: 11013295 Free article.

6

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C. Grohmann K, et al. Among authors: hubner c. Ann Neurol. 2003 Dec;54(6):719-24. doi: 10.1002/ana.10755. Ann Neurol. 2003. PMID: 14681881

7

Spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K. Kaindl AM, et al. Among authors: hubner c. J Child Neurol. 2008 Feb;23(2):199-204. doi: 10.1177/0883073807310989. J Child Neurol. 2008. PMID: 18263757

8

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.

von Renesse A, Petkova MV, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M. von Renesse A, et al. Among authors: hubner c. J Med Genet. 2014 Apr;51(4):275-82. doi: 10.1136/jmedgenet-2013-102236. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556084

9

Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.

Hübner C, Hoffmann GF, Charpentier C, Gibson KM, Finckh B, Puhl H, Lehr HA, Kohlschütter A. Hübner C, et al. Pediatr Res. 1993 Aug;34(2):129-33. doi: 10.1203/00006450-199308000-00004. Pediatr Res. 1993. PMID: 8233712

10

Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.

Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R, van Landeghem FK, Speer A, Braun T, Hübner C. Kerst B, et al. Among authors: hubner c. Neuromuscul Disord. 2000 Dec;10(8):572-7. doi: 10.1016/s0960-8966(00)00150-4. Neuromuscul Disord. 2000. PMID: 11053684

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