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Results:
1-24
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Results: 24
Authors:
Gasser, T
Dichgans, M
Finsterer, J
Hausmanowa-Petrusewicz, I
Jurkat-Rott, K
Klopstock, T
Leguern, E
Lehesjoki, AE
Lehmann-Horn, F
Lynch, T
Morris, H
Rossor, M
Steinlein, OK
Wood, N
Zaremba, J
Zeviani, M
Zoharn, A
Citation: T. Gasser et al., EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - Second of two parts, EUR J NEUR, 8(5), 2001, pp. 407-424
Authors:
Gasser, T
Dichgans, M
Finsterer, J
Hausmanowa-Petrusewicz, I
Jurkat-Rott, K
Klopstock, T
LeGuern, E
Lehesjoki, AE
Lehmann-Horn, F
Lynch, T
Morris, H
Rossor, M
Steinlein, OK
Wood, N
Zaremba, J
Zeviani, M
Zoharn, A
Citation: T. Gasser et al., EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts, EUR J NEUR, 8(4), 2001, pp. 299-314
Authors:
Lehesjoki, AE
Reed, VA
Gardiner, RM
Greene, NDE
Citation: Ae. Lehesjoki et al., Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis, MECH DEVEL, 108(1-2), 2001, pp. 221-225
Authors:
Cormand, B
Pihko, H
Bayes, M
Valanne, L
Santavuori, P
Talim, B
Gershoni-Baruch, R
Ahmad, A
van Bokhoven, H
Brunner, HG
Voit, T
Topaloglu, H
Dobyns, WB
Lehesjoki, AE
Citation: B. Cormand et al., Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease, NEUROLOGY, 56(8), 2001, pp. 1059-1069
Authors:
Joensuu, T
Hamalainen, R
Yuan, B
Johnson, C
Tegelberg, S
Gasparini, P
Zelante, L
Pirvola, U
Pakarinen, L
Lehesjoki, AE
de la Chapelle, A
Sankila, EM
Citation: T. Joensuu et al., Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3, AM J HU GEN, 69(4), 2001, pp. 673-684
Authors:
Ranta, S
Lehesjoki, AE
Citation: S. Ranta et Ae. Lehesjoki, Northern epilepsy, a new member of the NCL family, NEUROL SCI, 21(3), 2000, pp. S43-S47
Authors:
Avela, K
Lipsanen-Nyman, M
Idanheimo, N
Seemanova, E
Rosengren, S
Makela, TP
Perheentupa, J
de la Chapelle, A
Lehesjoki, AE
Citation: K. Avela et al., Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism, NAT GENET, 25(3), 2000, pp. 298-301
Authors:
Ranta, S
Zhang, YH
Ross, B
Takkunen, E
Hirvasniemi, A
de la Chapelle, A
Gilliam, TC
Lehesjoki, AE
Citation: S. Ranta et al., Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation, EUR J HUM G, 8(5), 2000, pp. 381-384
Authors:
Lonka, L
Kyttala, A
Ranta, S
Jalanko, A
Lehesjoki, AE
Citation: L. Lonka et al., The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum, HUM MOL GEN, 9(11), 2000, pp. 1691-1697
Authors:
Talim, B
Ferreiro, A
Cormand, B
Vignier, N
Oto, A
Gogus, S
Cila, A
Lehesjoki, AE
Pihko, H
Guicheney, P
Topaloglu, H
Citation: B. Talim et al., Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci, NEUROMUSC D, 10(8), 2000, pp. 548-552
Authors:
Lehesjoki, AE
Gardiner, RM
Citation: Ae. Lehesjoki et Rm. Gardiner, Genetics of disease - Away from the beaten track - Editorial overview, CUR OP GEN, 10(3), 2000, pp. 247-251
Authors:
D'amato, E
Kokaia, Z
Nanobashvili, A
Reeben, M
Lehesjoki, AE
Saarma, M
Lindvall, O
Citation: E. D'Amato et al., Seizures induce widespread upregulation of cystatin B, the gene mutated inprogressive myoclonus epilepsy, in rat forebrain neurons, EUR J NEURO, 12(5), 2000, pp. 1687-1695
Authors:
Joensuu, T
Hamalainen, R
Lehesjoki, AE
de la Chapelle, A
Sankila, EM
Citation: T. Joensuu et al., A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q, GENOMICS, 63(3), 2000, pp. 409-416
Authors:
Alakurtti, K
Virtaneva, K
Joensuu, T
Palvimo, JJ
Lehesjoki, AE
Citation: K. Alakurtti et al., Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1, GENE, 242(1-2), 2000, pp. 65-73
Authors:
Jarvinen, O
Lehesjoki, AE
Lindlof, M
Uutela, A
Kaariainen, H
Citation: O. Jarvinen et al., Carrier testing of children for two X-linked diseases: A retrospective study of comprehension of the test results and social and psychological significance of the testing, PEDIATRICS, 106(6), 2000, pp. 1460-1465
Authors:
Nopola-Hemmi, J
Taipale, M
Haltia, T
Lehesjoki, AE
Voutilainen, A
Kere, J
Citation: J. Nopola-hemmi et al., Two translocations of chromosome 15q associated with dyslexia, J MED GENET, 37(10), 2000, pp. 771-775
Authors:
Nokelainen, P
Heiskala, H
Lehesjoki, AE
Kaski, M
Citation: P. Nokelainen et al., A patient with 2 different repeat expansion mutations, ARCH NEUROL, 57(8), 2000, pp. 1199-1203
Authors:
Lehesjoki, AE
Citation: Ae. Lehesjoki, Genetic basis for myoclonic epilepsies, ACT NEUR SC, 102, 2000, pp. 23-24
Authors:
Paavola, P
Avela, K
Horelli-Kuitunen, N
Barlund, M
Kallioniemi, A
Idanheimo, N
Kyttala, M
de la Chapelle, A
Palotie, A
Lehesjoki, AE
Peltonen, L
Citation: P. Paavola et al., High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23, GENOME RES, 9(3), 1999, pp. 267-276
Authors:
Ranta, S
Zhang, YH
Ross, B
Lonka, L
Takkunen, E
Messer, A
Sharp, J
Wheeler, R
Kusumi, K
Mole, S
Liu, WC
Soares, MB
Bonaldo, MD
Hirvasniemi, A
de la Chapelle, A
Gilliam, TC
Lehesjoki, AE
Citation: S. Ranta et al., The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8, NAT GENET, 23(2), 1999, pp. 233-236
Authors:
Haltia, M
Tyynela, J
Hirvasniemi, A
Herva, R
Ranta, US
Lehesjoki, AE
Citation: M. Haltia et al., Northern epilepsy, BIOM HLTH R, 33, 1999, pp. 117-124
Authors:
Jarvinen, O
Aalto, AM
Lehesjoki, AE
Lindlof, M
Soderling, I
Uutela, A
Kaariainen, H
Citation: O. Jarvinen et al., Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation, J MED GENET, 36(8), 1999, pp. 615-620
Authors:
Lehesjoki, AE
Koskiniemi, M
Citation: Ae. Lehesjoki et M. Koskiniemi, Progressive myoclonus epilepsy of Unverricht-Lundborg type, EPILEPSIA, 40, 1999, pp. 23-28
Authors:
Corman, B
Avela, K
Pihko, H
Santavuori, P
Talim, B
Topaloglu, H
de la Chapelle, A
Lehesjoki, AE
Citation: B. Corman et al., Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping, AM J HU GEN, 64(1), 1999, pp. 126-135
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