Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

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Published in Ophthalmic Genet on December 01, 2001

Authors

L Tranebjaerg1, P K Jensen, M Van Ghelue, C L Vnencak-Jones, S Sund, K Elgjo, J Jakobsen, S Lindal, M Warburg, A Fuglsang-Frederiksen, K Skullerud

Author Affiliations

1: Department of Medical Genetics, University Hospital of Tromsø, Tromsø, Norway. lisbetht@fagmed.uit.no

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Cervical lymph node metastases from unknown primary tumours. Results from a national survey by the Danish Society for Head and Neck Oncology. Radiother Oncol (2000) 1.64

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A randomized, double-blind, placebo-controlled MRI study of anti-herpes virus therapy in MS. Neurology (2002) 1.56

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Isolation of lipid particles from baker's yeast. FEBS Lett (1974) 1.53

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Teenage girls and elderly women living in northern Europe have low winter vitamin D status. Eur J Clin Nutr (2005) 1.53

Stenosis of the common bile duct in chronic pancreatitis. Br J Surg (1982) 1.53

Pain sensation and nociceptive reflex excitability in surgical patients and human volunteers. Br J Anaesth (1992) 1.52

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IFCN standards for digital recording of clinical EEG. International Federation of Clinical Neurophysiology. Electroencephalogr Clin Neurophysiol (1998) 1.43

Leucovorin and maximum tolerated dose toxicity of methotrexate in rats. Pediatr Hematol Oncol (2000) 1.41

Antimycin-insensitive oxidation of succinate and reduced nicotinamide-adenine dinucleotide in electron-transport particles. I. pH dependency and hydrogen peroxide formation. Biochim Biophys Acta (1966) 1.41

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Sclerosing cholangitis in ulcerative colitis. Scand J Gastroenterol (1980) 1.28

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Comparison of two-stage epidermal carcinogenesis initiated by 7,12-dimethylbenz(a)anthracene or N-methyl-N'-nitro-N-nitrosoguanidine in newborn and adult SENCAR and BALB/c mice. Cancer Res (1981) 1.26

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Allelic origin of the abnormal prion protein isoform in familial prion diseases. Nat Med (1997) 1.23

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Local recurrences in giant cell tumour of bone. Long-term follow up of 31 cases. Int Orthop (1996) 1.22

Peripheral nerves in early experimental diabetes: expansion of the endoneurial space as a cause of increased water content. Diabetologia (1978) 1.22

Early and preventable changes of peripheral nerve structure and function in insulin-deficient diabetic rats. J Neurol Neurosurg Psychiatry (1979) 1.20

Genetics of microphthalmos. Int Ophthalmol (1981) 1.19

p53 gene mutations and steroid receptor status in breast cancer. Clinicopathologic correlations and prognostic assessment. Cancer (1994) 1.18

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Relationship of inflammatory bowel disease and primary sclerosing cholangitis. Semin Liver Dis (1991) 1.15

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The prognosis in meningiomas. Acta Neuropathol (1974) 1.07

Epidermal regeneration after cellophane tape stripping of hairless mouse skin. Cell Tissue Kinet (1970) 1.07

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Visual impairment in Nordic children. I. Nordic registers and prevalence data. Acta Ophthalmol (Copenh) (1992) 1.05

Hypoxic/ischaemic brain damage, especially pallidal lesions, in heroin addicts. Forensic Sci Int (1999) 1.04

Clinical and electrophysiological studies of human immunodeficiency virus-seropositive men without AIDS. Ann Neurol (1988) 1.04

Risk factors in primary sclerosing cholangitis. J Hepatol (1994) 1.04