Genetic basis for myoclonic epilepsiesLEHESJOKI, A.-E.Acta neurologica Scandinavica. Supplementum. 2000, Vol 102, Num 175, pp 23-24, issn 0065-1427Conference Paper

Clinical features and genetics of progressive myoclonus epilepsy of the Unverricht-Lundborg typeLEHESJOKI, A.-E; KOSKINIEMI, M.Annals of medicine (Helsinki). 1998, Vol 30, Num 5, pp 474-480, issn 0785-3890Article

Hemophilia B : diagnostic value of RFLP analysis in 19 of the 20 known finnish familiesLEHESJOKI, A.-E; RASI, V; DE LA CHAPELLE, A et al.Clinical genetics. 1990, Vol 38, Num 3, pp 187-197, issn 0009-9163Article

Hemophilia A: experiences and attitudes of mothers, sisters, and daughtersRANTA, S; LEHESJOKI, A.-E; PEIPPO, M et al.Pediatric hematology and oncology. 1994, Vol 11, Num 4, pp 387-397, issn 0888-0018Article

Hemophilia A : genetic prediction and linkage studies in all available familiesin FinlandLEHESJOKI, A.-E; SISTONEN, P; RASI, V et al.Clinical genetics. 1991, Vol 39, Num 3, pp 199-209, issn 0009-9163Article

Northern epilepsy syndrome : an inherited childhood onset epilepsy with associated mental deteriorationHIRVASNIEMI, A; LANG, H; LEHESJOKI, A.-E et al.Journal of medical genetics. 1994, Vol 31, Num 3, pp 177-182, issn 0022-2593Article

Molecular analysis of hemophilia A mutations in the finnish populationLEVINSON, B; LEHESJOKI, A.-E; DE LA CHAPELLE, A et al.American journal of human genetics. 1990, Vol 46, Num 1, pp 53-62, issn 0002-9297Article

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and painLIAO, Y; ANTTONEN, A.-K; LEHESJOKI, A.-E et al.Neurology. 2010, Vol 75, Num 16, pp 1454-1458, issn 0028-3878, 5 p.Article

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish originSIINTOLA, E; TOPCU, M; KOHLSCHÜTTER, A et al.Clinical genetics. 2005, Vol 68, Num 2, pp 167-173, issn 0009-9163, 7 p.Article

Carrier testing of children for two X linked diseases in a family based setting : a retrospective long term psychosocial evaluationJÄRVINEN, O; AALTO, A.-M; LEHESJOKI, A.-E et al.Journal of medical genetics. 1999, Vol 36, Num 8, pp 615-620, issn 0022-2593Article

Progressive myoclonus epilepsy of unverricht-Lundborg type : a clinical and molecular genetic study of a family from the United States with four affected sibsLEHESJOKI, A.-E; ELDRIDGE, R; ELDRIDGE, J et al.Neurology. 1993, Vol 43, Num 11, pp 2384-2386, issn 0028-3878Article

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulumLONKA, L; KYTTÄLÄ, A; RANTA, S et al.Human molecular genetics (Print). 2000, Vol 9, Num 11, pp 1691-1697, issn 0964-6906Article

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1VIRTANEVA, K; D'AMATO, E; PENNACCHIO, L. A et al.Nature genetics. 1997, Vol 15, Num 4, pp 393-396, issn 1061-4036Article

The distribution of linkage disequilibrium over anonymous genome regionsPETERSON, A. C; DI RIENZO, A; LEHESJOKI, A.-E et al.Human molecular genetics (Print). 1995, Vol 4, Num 5, pp 887-894, issn 0964-6906Article

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsySTRIANO, P; WEBER, Y. G; POLVI, A et al.Neurology. 2012, Vol 78, Num 8, pp 557-562, issn 0028-3878, 6 p.Article

Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model CIn8^mnd: implications to delayed myelination and oligodendrocyte maturationKURONEN, M; HERMANSSON, M; LEHESJOKI, A.-E et al.Neuropathology and applied neurobiology (Print). 2012, Vol 38, Num 5, pp 471-486, issn 0305-1846, 16 p.Article

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseCORMAND, B; PIHKO, H; VOIT, T et al.Neurology. 2001, Vol 56, Num 8, pp 1059-1069, issn 0028-3878Article

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mappingCORMAND, B; AVELA, K; PIHKO, H et al.American journal of human genetics. 1999, Vol 64, Num 1, pp 126-135, issn 0002-9297Article

Familial pericentric inversion inv(8)(p23q11)BOYD, H; KASTE, J; HOVI, E et al.Journal of medical genetics. 1994, Vol 31, Num 3, pp 201-205, issn 0022-2593Article

A Taql polymorphism adjacent to the factor VIII gene (F8C)KENWRICK, S; BRIDGE, P; LEHESJOKI, A.-E et al.Nucleic acids research. 1991, Vol 19, Num 9, issn 0305-1048, p. 2513Article

Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanismHÄMÄLÄINEN, R. H; MOWAT, D; GABBETT, M. T et al.Clinical genetics. 2006, Vol 70, Num 6, pp 473-479, issn 0009-9163, 7 p.Article

A known polymorphism in the bile salt export pump gene is not a risk allele for intrahepatic cholestasis of pregnancyPAINTER, J. N; SAVANDER, M; SISTONEN, P et al.Scandinavian journal of gastroenterology. 2004, Vol 39, Num 7, pp 694-695, issn 0036-5521, 2 p.Article

Efficacy of levetiracetam in a patient with Unverricht-Lundborg progressive myoclonic epilepsyKINRIONS, P; IBRAHIM, N; MURPHY, K et al.Neurology. 2003, Vol 60, Num 8, pp 1394-1395, issn 0028-3878, 2 p.Article

Progressive myoclonus epilepsy of unverricht-lundborg typeLEHESJOKI, A.-E; KOSKINIEMI, M.Epilepsia (Copenhagen). 1999, Vol 40, pp 23-28, issn 0013-9580, SUP3Conference Paper

Assignment of the Mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysisAVELA, K; LIPSANEN-NYMAN, M; PERHEENTUPA, J et al.American journal of human genetics. 1997, Vol 60, Num 4, pp 896-902, issn 0002-9297Article