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51

A Sequence-Ready Map of the Usher Syndrome Type III Critical Region on Chromosome 3q

Tarja Joensuu, Riikka Hämäläinen, Anna-Elina Lehesjoki, Albert de la Chapelle, Eeva-Marja Sankila

Journal:

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

52

Un gène identifié

AE Lehesjoki, RM Myers

Journal:

Year:

1996

File:

PDF, 164 KB

1996

53

Molecular genetics of the NCLs — status and perspectives

Eija Siintola, Anna-Elina Lehesjoki, Sara E Mole

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2006

Language:

english

File:

PDF, 189 KB

english, 2006

54

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men

Anne Saarinen, Ville-Valtteri Välimäki, Matti J. Välimäki, Eliisa Löyttyniemi, Kirsi Auro, Piia Uusen, Mairi Kuris, Anna-Elina Lehesjoki, Outi Mäkitie

Journal:

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

55

Heterozygous LRP5 mutations in children with fractures

A. Saarinen, M.K. Mäyränpää, A.E. Lehesjoki, O. Mäkitie

Journal:

Year:

2007

Language:

english

File:

PDF, 77 KB

english, 2007

56

Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children

Anne Saarinen, Mervi K. Mäyränpää, Anna-Elina Lehesjoki, Outi Mäkitie

Journal:

Year:

2010

Language:

english

File:

PDF, 187 KB

english, 2010

57

Characterisation of the mulibrey nanism-associated TRIM37 gene: Transcription initiation, promoter region and alternative splicing

Riikka H. Hämäläinen, Tarja Joensuu, Jukka Kallijärvi, Anna-Elina Lehesjoki

Journal:

Year:

2006

Language:

english

File:

PDF, 652 KB

english, 2006

58

Primary motor cortex alterations in a compound heterozygous form of Unverricht–Lundborg disease (EPM1)

Nils Danner, Petro Julkunen, Mervi Könönen, Jelena Hyppönen, Päivi Koskenkorva, Ritva Vanninen, Anna-Elina Lehesjoki, Reetta Kälviäinen, Esa Mervaala

Journal:

Year:

2011

Language:

english

File:

PDF, 1020 KB

english, 2011

59

Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes

Karin Brännvall, Helena Hjelm, Laura Korhonen, Ulla Lahtinen, Anna-Elina Lehesjoki, Dan Lindholm

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 294 KB

english, 2003

60

Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures

Teija Silén, Tero Karjalainen, Anna-Elina Lehesjoki, Nina Forss

Journal:

Neuroscience Letters

Year:

2002

Language:

english

File:

PDF, 98 KB

english, 2002

61

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1

Kirsi Alakurtti, Kimmo Virtaneva, Tarja Joensuu, Jorma J. Palvimo, Anna-Elina Lehesjoki

Journal:

Year:

2000

Language:

english

File:

PDF, 284 KB

english, 2000

62

Genetics of disease: Away from the beaten track

Anna-Elina Lehesjoki, R Mark Gardiner

Journal:

Current Opinion in Genetics & Development

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000

63

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci

Beril Talim, Ana Ferreiro, Bru Cormand, Nicolas Vignier, Aytekin Oto, Safiye Göǧüş, Ayşenur Cila, Anna-Elina Lehesjoki, Helena Pihko, Pascale Guicheney, Haluk Topaloǧlu

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 2.49 MB

english, 2000

64

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloglu, Albert de la Chapelle, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.50 MB

english, 1999

65

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante, Ulla Pirvola, Leenamaija Pakarinen, Anna-Elina Lehesjoki, Albert de la Chapelle, Eeva-Mar

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.22 MB

english, 2001

66

The TRIM37 Gene Encodes a Peroxisomal RING-B-Box-Coiled-Coil Protein: Classification of Mulibrey Nanism as a New Peroxisomal Disorder

Jukka Kallijärvi, Kristiina Avela, Marita Lipsanen-Nyman, Ismo Ulmanen, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 909 KB

english, 2002

67

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Juha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, Kate Chandler, Satu Kivitie-Kallio, Jill Clayton-Smith, Ann-Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross-Tsur, Elias I.

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 749 KB

english, 2004

68

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A. Minassian, Andrew D. Paterson, Xiao-Qing Liu, Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 15.96 MB

english, 2007

69

TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase

Jukka Kallijärvi, Ulla Lahtinen, Riikka Hämäläinen, Marita Lipsanen-Nyman, Jorma J. Palvimo, Anna-Elina Lehesjoki

Journal:

Experimental Cell Research

Year:

2005

Language:

english

File:

PDF, 414 KB

english, 2005

70

Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis

Anna-Elina Lehesjoki, Victoria A. Reed, R. Mark Gardiner, Nicholas D.E. Greene

Journal:

Mechanisms of Development

Year:

2001

Language:

english

File:

PDF, 649 KB

english, 2001

71

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.- E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnbe

Journal:

Year:

2012

Language:

english

File:

PDF, 631 KB

english, 2012

72

Thickened skull, scoliosis and other skeletal findings in Unverricht–Lundborg disease link cystatin B function to bone metabolism

Sanna Suoranta, Hannu Manninen, Päivi Koskenkorva, Mervi Könönen, Rita Laitinen, Anna-Elina Lehesjoki, Reetta Kälviäinen, Ritva Vanninen

Journal:

Year:

2012

Language:

english

File:

PDF, 730 KB

english, 2012

73

Variation of CNV distribution in five different ethnic populations

White, S.J., Vissers, L.E.L.M., Geurts van Kessel, A., de Menezes, R.X., Kalay, E., Lehesjoki, A.E., Giordano, P.C., van de Vosse, E., Breuning, M.H., Brunner, H.G., den Dunnen, J.T., Veltman, J.A.

Journal:

Cytogenetic and Genome Research

Year:

2007

Language:

english

File:

PDF, 589 KB

english, 2007

74

Encyclopedia of Movement Disorders || Cystatin B

Lehesjoki, A.-E.

Year:

2010

Language:

english

File:

PDF, 73 KB

english, 2010

75

Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene

Koskenkorva, Päivi, Hyppönen, Jelena, Äikiä, Marja, Mervaala, Esa, Kiviranta, Tuula, Eriksson, Kai, Lehesjoki, Anna-Elina, Vanninen, Ritva, Kälviäinen, Reetta

Journal:

Neurodegenerative Diseases

Year:

2011

Language:

english

File:

PDF, 210 KB

english, 2011

76

MOSAICISM AND SPORADIC HAEMOPHILIA: IMPLICATIONS FOR CARRIER DETERMINATION

Gitschier, Jane, Levinson, Barbara, Lehesjoki, Anna-Elina, De La Chapelle, Albert

Journal:

Year:

1989

Language:

english

File:

PDF, 418 KB

english, 1989

77

HAEMOPHILIA A: TWO RECOMBINATIONS DETECTED WITH PROBE Stl4

Lehesjoki, A.-E., De La Chapelle, A., Rasi, V.

Journal:

Year:

1986

Language:

english

File:

PDF, 140 KB

english, 1986

78

Identical genetic locus for Baltic and Mediterranean myoclonus

Michelucci, R, Malafosse, A, Labauge, P, Lehesjoki, A.E, de la Chapelle, A, Genton, P, Dravet, Ch, Durand, G, Tassinari, C.A

Journal:

Year:

1992

Language:

english

File:

PDF, 311 KB

english, 1992

79

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype

Horvers, M., Anttonen, A.K., Lehesjoki, A.E., Morava, E., Wortmann, S., Vermeer, S., van de Warrenburg, B.P., Willemsen, M.A.

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 221 KB

english, 2013

80

A known polymorphism in the bile salt export pump gene is not a risk allele for intrahepatic cholestasis of pregnancy

Painter, J. N., Savander, M., Sistonen, P., Lehesjoki, A.‐E., Aittomäki, K.

Journal:

Scandinavian Journal of Gastroenterology

Year:

2004

Language:

english

File:

PDF, 45 KB

english, 2004

81

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

Rinne, Riitta, Saukko, Pekka, Järvinen, Mikko, Lehesjoki, Anna-Elina

Journal:

Annals of Medicine

Year:

2002

Language:

english

File:

PDF, 228 KB

english, 2002

82

Clinical features and genetics of progressive myoclonus epilepsy of the Unverricht-Lundborg type

Lehesjoki, Anna-Elina, Koskiniemi, Marjaleena

Journal:

Annals of Medicine

Year:

1998

Language:

english

File:

PDF, 670 KB

english, 1998

83

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6

Heine, Claudia, Heine, Claudia, Quitsch, Arne, Storch, Stephan, Martin, Yella, Lonka, Liina, Lehesjoki, Anna-Elina, Mole, Sara E., Braulke, Thomas

Journal:

Molecular Membrame Biology

Year:

2007

Language:

english

File:

PDF, 673 KB

english, 2007

84

1. Benign form of Unverricht–Lundborg disease (ULD) mimicking juvenile myoclonic epilepsy (JME) in adulthood

Amrom, D., Moghaddam, M.R. Heshmati, Andermann, F., Lehesjoki, A.-E., Andermann, E.

Journal:

Clinical Neurophysiology

Year:

2014

Language:

english

File:

PDF, 92 KB

english, 2014

85

Carrier Testing of Children for Two X-Linked Diseases: A Retrospective Evaluation of Experience and Satisfaction of Subjects and Their Mothers

JÄRVINEN, OUTI, LEHESJOKI, ANNA-ELINA, LINDLÖF, MIKAEL, UUTELA, ANTTI, KÄÄRIÄINEN, HELENA

Journal:

Genetic Testing

Year:

1999

Language:

english

File:

PDF, 1.21 MB

english, 1999

86

A Novel Splice Mutation in PLS3 Causes X-linked Early Onset Low-Turnover Osteoporosis

Laine, Christine M, Wessman, Maija, Toiviainen-Salo, Sanna, Kaunisto, Mari A, Mäyränpää, Mervi K, Laine, Tero, Pekkinen, Minna, Kröger, Heikki, Välimäki, Ville-Valtteri, Välimäki, Matti J, Lehesjoki,

Journal:

Journal of Bone and Mineral Research

Year:

2015

Language:

english

File:

PDF, 908 KB

english, 2015

87

Abnormal microglial activation in the Cstb −/− mouse, a model for progressive myoclonus epilepsy, EPM1

Okuneva, Olesya, Körber, Inken, Li, Zhilin, Tian, Li, Joensuu, Tarja, Kopra, Outi, Lehesjoki, Anna-Elina

Journal:

Year:

2015

Language:

english

File:

PDF, 879 KB

english, 2015

88

The Gene for a Recessively Inherited Human Childhood Progressive Epilepsy with Mental Retardation Maps to the Distal Short Arm of Chromosome 8

Esa Tahvanainen, Susanna Ranta, Aune Hirvasniemi, Elvi Karila, Jaakko Leisti, Pertti Sistonen, Jean Weissenbach, Anna-Elina Lehesjoki and Albert dela Chapelle

Journal:

Proceedings of the National Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 672 KB

english, 1994

89

Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1

Lehtinen, M. K., Tegelberg, S., Schipper, H., Su, H., Zukor, H., Manninen, O., Kopra, O., Joensuu, T., Hakala, P., Bonni, A., Lehesjoki, A.-E.

Journal:

Journal of Neuroscience

Year:

2009

Language:

english

File:

PDF, 232 KB

english, 2009

90

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.

Stone, N E, Fan, J B, Willour, V, Pennacchio, L A, Warrington, J A, Hu, A, de la Chapelle, A, Lehesjoki, A E, Cox, D R, Myers, R M

Journal:

Genome Research

Year:

1996

Language:

english

File:

PDF, 802 KB

english, 1996

91

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

Ranta, S, Lehesjoki, A E, Hirvasniemi, A, Weissenbach, J, Ross, B, Leal, S M, de la Chapelle, A, Gilliam, T C

Journal:

Genome Research

Year:

1996

Language:

english

File:

PDF, 1.07 MB

english, 1996

92

Leukoencephalopathy, cerebral calcifications and cysts: a family study

Karlinger, Kinga, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Polvi, Anne, Lehesjoki, Anna-Elina, Kelemen, Andrea, Szegedi, László, Turányi, Eszter, Kamondi, Anita, Szűcs, Anna

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 550 KB

english, 2014

93

Familial pericentric inversion inv(8)(p23q11).

Boyd, H, Kaste, J, Hovi, E, Ritanen-Mohammed, U M, Kaariainen, H, de la Chapelle, A, Lehesjoki, A E

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 727 KB

english, 1994

94

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

Hirvasniemi, A, Lang, H, Lehesjoki, A E, Leisti, J

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 930 KB

english, 1994

95

Shared Loci for Migraine and Epilepsy on Chromosomes 14q12-q23 and 12q24.2-q24.3

Millichap, J. J., Nordli, D. R., Siren, A. L. M., Rantala, H., Polvi, A., Wessman, M., Lehesjoki, A.-E., Panayiotopoulos, C. P., Koutroumanidis, M., Ferrie, C. D., Siren, A. L. M., Rantala, H., Polvi,

Journal:

Year:

2012

Language:

english

File:

PDF, 193 KB

english, 2012

96

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

Lehesjoki, A. E., Koskiniemi, M., Sistonen, P., Miao, J., Hastbacka, J., Norio, R., de la Chapelle, A.

Journal:

Proceedings of the National Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 775 KB

english, 1991

97

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

Lehesjoki, A E, Sankila, E M, Miao, J, Somer, M, Salonen, R, Rapola, J, de la Chapelle, A

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 786 KB

english, 1990

98

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

Jarvinen, O., Lehesjoki, A.-E., Lindlof, M., Uutela, A., Kaariainen, H.

Journal:

Year:

2000

Language:

english

File:

PDF, 141 KB

english, 2000

99

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 969 KB

english, 2012

100

Localization of a Gene for Progressive Myoclonus Epilepsy to Chromosome 21q22

Anna-Elina Lehesjoki, Marjaleena Koskiniemi, Pertti Sistonen, Jinmin Miao, Johanna Hastbacka, Reijo Norio and Albert de la Chapelle

Journal:

Proceedings of the National Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 674 KB

english, 1991