Terkko Navigator / Huoponen, K.

Genomic analysis of the 55 kDa subunit of DNA polymerase epsilon in human intracranial neoplasms

Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis

Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance

Migration waves to the Baltic Sea region

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis

Nutrient intake in lysinuric protein intolerance

Heterodimerization of y(+)LAT-1 and 4F2hc visualized by acceptor photobleaching FRET microscopy

Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

Long-term oral lysine supplementation in lysinuric protein intolerance

Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

Regional differences among the Finns: a Y-chromosomal perspective

From East or West? The genetic roots of Finns

Hazards associated with pregnancies and deliveries in lysinuric protein intolerance

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

Congenital insensitivity to pain, anhidrosis and premature loss of baby teeth as a symptoms of rare neuropathy

Dominant optic atrophy: correlation between clinical and molecular genetic studies

Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1)

Tandem repeats and length variation in the mitochondrial DNA control region of Epirrita autumnata (Lepidoptera: Geometridae)

Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families

A rare mitochondrial DNA haplotype observed in Koreans

Genetic counseling in Leber hereditary optic neuropathy (LHON)

Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells

Mitochondrial DNA variation in an aboriginal Australian population: evidence for genetic isolation and regional differentiation

Leber hereditary optic neuropathy: clinical and molecular genetic findings

A signal, from human mtDNA, of postglacial recolonization in Europe

mtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations

mtDNA haplogroups and frequency patterns in Europe

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy

Mitochondrial DNA and Y chromosome-specific polymorphisms in the Seminole Tribe of Florida

Classification of European mtDNAs from an analysis of three European populations

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

Pre-excitation syndrome in Leber's hereditary optic neuropathy

Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

Gene defects in Leber hereditary optic neuroretinopathy

Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

Recent advances in Leber's hereditary optic neuroretinopathy

Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy