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1

P18.9 Infantile neuroaxonal dystrophy: Are there clinical clues for early diagnosis?

M. Topcu, E. Acar, G. Haliloglu, K.K. Oguz, B. Anlar, A.-E. Lehesjoki

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 35 KB

english, 2011

2

Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

Gaily, Eija, Anttonen, Anna-Kaisa, Valanne, Leena, Liukkonen, Elina, Träskelin, Ann-Liz, Polvi, Anne, Lommi, Markus, Muona, Mikko, Eriksson, Kai, Lehesjoki, Anna-Elina

Journal:

Year:

2013

Language:

english

File:

PDF, 245 KB

english, 2013

3

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

I. Balikova, A-E. Lehesjoki, T.J.L. de Ravel, B. Thienpont, K.E. Chandler, J. Clayton-Smith, A-L. Träskelin, J-P. Fryns, J.R. Vermeesch

Journal:

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

4

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

Pennacchio, L. A., Lehesjoki, A.-E., Stone, N. E., Willour, V. L., Virtaneva, K., Miao, J., D'Amato, E., Ramirez, L., Faham, M., Koskiniemi, M., Warrington, J. A., Norio, R., de la Chapelle, A., Cox,

Journal:

Year:

1996

Language:

english

File:

PDF, 533 KB

english, 1996

5

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

Liao, Y., Anttonen, A.- K., Liukkonen, E., Gaily, E., Maljevic, S., Schubert, S., Bellan-Koch, A., Petrou, S., Ahonen, V. E., Lerche, H., Lehesjoki, A.- E.

Journal:

Year:

2010

Language:

english

File:

PDF, 1.55 MB

english, 2010

6

Defining the phenotypic spectrum of SLC6A1 mutations

Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, de Saint Martin, Anne, Lehesjoki, Anna-Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi-Warde, Marie-Thérèse,

Journal:

Year:

2018

Language:

english

File:

PDF, 2.51 MB

english, 2018

7

Cohen syndrome in the Ohio Amish

Marni J. Falk, Heidi S. Feiler, Derek E. Neilson, Kathleen Maxwell, James V. Lee, Samantha K. Segall, Nathaniel H. Robin, Kirk C. Wilhelmsen, Ann-Liz Träskelin, Juha Kolehmainen, Anna-Elina Lehesjoki,

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 114 KB

english, 2004

8

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

Susanna Ranta, Meral Topcu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Isil Saatci, Andreas Dufke, Herbert Enders, Keith Pohl, Yves Alembik, Wayne A. Mitchell, Sara E. Mole, Anna-Elina Lehesjoki

Journal:

Year:

2004

Language:

english

File:

PDF, 242 KB

english, 2004

9

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

Maria Kousi, Anna-Elina Lehesjoki, Sara E. Mole

Journal:

Year:

2012

Language:

english

File:

PDF, 1.01 MB

english, 2012

10

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

Liina Lonka, Tarja Salonen, Eija Siintola, Outi Kopra, Anna-Elina Lehesjoki, Anu Jalanko

Journal:

Journal of Neuroscience Research

Year:

2004

Language:

english

File:

PDF, 1.01 MB

english, 2004

11

Digenic mutations in severe myoclonic epilepsy of infancy

Maija Bolszak, Anna-Kaisa Anttonen, Tuomas Komulainen, Reetta Hinttala, Salla Pakanen, Raija Sormunen, Riitta Herva, Anna-Elina Lehesjoki, Kari Majamaa, Heikki Rantala, Johanna Uusimaa

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 445 KB

english, 2009

12

Altered cortical inhibition in Unverricht–Lundborg type progressive myoclonus epilepsy (EPM1)

Nils Danner, Petro Julkunen, Jelena Khyuppenen, Taina Hukkanen, Mervi Könönen, Laura Säisänen, Päivi Koskenkorva, Ritva Vanninen, Anna-Elina Lehesjoki, Reetta Kälviäinen, Esa Mervaala

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 588 KB

english, 2009

13

Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q

Robert Robinson, Nichole Taske, Thomas Sander, Armin Heils, William Whitehouse, Françoise Goutières, Jean Aicardi, Anna-Elina Lehesjoki, Auli Siren, Mogens Laue Friis, Marianne Juel Kjeldsen, Chrysost

Journal:

Epilepsy Research

Year:

2002

Language:

english

File:

PDF, 222 KB

english, 2002

14

Genetic basis for myoclonic epilepsies

A.-E. Lehesjoki

Journal:

Acta Neurologica Scandinavica

Year:

2000

Language:

english

File:

PDF, 436 KB

english, 2000

15

Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons

Elena D'amato, Zaal Kokaia, Avtandil Nanobashvili, Mati Reeben, Anna-Elina Lehesjoki, Mart Saarma, Olle Lindvall

Journal:

European Journal of Neuroscience

Year:

2000

Language:

english

File:

PDF, 1.63 MB

english, 2000

16

PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus

Anna-Elina Lehesjoki, Carlo Alberto Tassinari, Giuliano Avanzini, Roberto Michelucci, Silvana Franceschetti, Antonella Antonelli, Guido Rubboli, Albert Chapelle

Journal:

Year:

1994

Language:

english

File:

PDF, 645 KB

english, 1994

17

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

Karen Fritchie, Eija Siintola, Diane Armao, Anna-Elina Lehesjoki, Thomas Marino, Cynthia Powell, Michael Tennison, Jessica M. Booker, Sabine Koch, Sanna Partanen, Kinuko Suzuki, Jaana Tyynelä, Leigh B

Journal:

Acta Neuropathologica

Year:

2009

Language:

english

File:

PDF, 476 KB

english, 2009

18

Myopathy is a prominent feature in Marinesco-Sjögren syndrome

I. Mahjneh, A.-K. Anttonen, M. Somer, A. Paetau, A.-E. Lehesjoki, H. Somer, B. Udd

Journal:

Journal of Neurology

Year:

2006

Language:

english

File:

PDF, 291 KB

english, 2006

19

Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues

Jukka Kallijärvi, Riikka H. Hämäläinen, Niklas Karlberg, Kirsi Sainio, Anna-Elina Lehesjoki

Journal:

Histochemistry and Cell Biology

Year:

2006

Language:

english

File:

PDF, 816 KB

english, 2006

20

Northern epilepsy, a new member of the NCL family

S. Ranta, A.-E. Lehesjoki

Journal:

Neurological Sciences

Year:

2000

Language:

english

File:

PDF, 67 KB

english, 2000

21

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

Wenli Zhang, Jiri Vajsar, Pinjiang Cao, Galen Breningstall, Charlotta Diesen, William Dobyns, Ralph Herrmann, Anna-Elina Lehesjoki, Alice Steinbrecher, Beril Talim, Tatsushi Toda, Haluk Topaloglu, Tho

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

22

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

Anne Saarinen, Tero Saukkonen, Tero Kivelä, Ulla Lahtinen, Christine Laine, Mirja Somer, Sanna Toiviainen-Salo, William G. Cole, Anna-Elina Lehesjoki, Outi Mäkitie

Journal:

Clinical Endocrinology

Year:

2010

Language:

english

File:

PDF, 317 KB

english, 2010

23

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

E Siintola, M Topcu, A Kohlschütter, T Salonen, T Joensuu, A-K Anttonen, A-E Lehesjoki

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 1.12 MB

english, 2005

24

Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism

RH Hämäläinen, D Mowat, MT Gabbett, TA O’Brien, J Kallijärvi, A-E Lehesjoki

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 343 KB

english, 2006

25

Experiences of patients with insulin-treated diabetes in conscript military service

T. Sane, A. Rautuoja, M. Mäkelä, J. Westerberg, M. Lehesjoki

Journal:

Diabetic Medicine

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

26

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

Martin Hermansson, Reijo Käkelä, Maria Berghäll, Anna-Elina Lehesjoki, Pentti Somerharju, Ulla Lahtinen

Journal:

Journal of Neurochemistry

Year:

2005

Language:

english

File:

PDF, 415 KB

english, 2005

27

Familial Unverricht-Lundborg Disease: A Clinical, Neurophysiologic, and Genetic Study

Antonia Parmeggiani, Anna-Elina Lehesjoki, Valerio Carelli, Annio Posar, Andrea Santi, Margherita Santucci, Giuseppe Gobbi, Antonella Pini, Paola Giovanardi Rossi

Journal:

Year:

1997

Language:

english

File:

PDF, 512 KB

english, 1997

28

Progressive Myoclonus Epilepsy of Unverricht-Lundborg Type

Anna-Elina Lehesjoki, Marjaleena Koskiniemi

Journal:

Year:

1999

Language:

english

File:

PDF, 603 KB

english, 1999

29

Molecular background of EPM1—Unverricht–Lundborg disease

Tarja Joensuu, Anna-Elina Lehesjoki, Outi Kopra

Journal:

Year:

2008

Language:

english

File:

PDF, 525 KB

english, 2008

30

Unverricht-Lundborg disease and ceroid lipofuscinoses

Anna-Elina Lehesjoki, Richard Mark Gardiner

Journal:

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

31

10.1038/77053

Avela, Kristiina, Lipsanen-Nyman, Marita, Idänheimo, Niina, Seemanová, Eva, Rosengren, Sally, Mäkelä, Tomi P., Perheentupa, Jaakko, Chapelle, Albert de la, Lehesjoki, Anna-Elina

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 634 KB

english, 2000

32

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

Anttonen, Anna-Kaisa, Siintola, Eija, Tranebjaerg, Lisbeth, Iwata, Nobue K, Bijlsma, Emilia K, Meguro, Hiroyuki, Ichikawa, Yaeko, Goto, Jun, Kopra, Outi, Lehesjoki, Anna-Elina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 249 KB

english, 2008

33

Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas

Karlberg, Susann, Lipsanen-Nyman, Marita, Lassus, Heini, Kallijärvi, Jukka, Lehesjoki, Anna-Elina, Butzow, Ralf

Journal:

Modern Pathology

Year:

2009

Language:

english

File:

PDF, 432 KB

english, 2009

34

Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation

Ranta, Susanna, Zhang, Yonghui, Ross, Barbara, Takkunen, Elina, Hirvasniemi, Aune, de la Chapelle, Albert, Gilliam, T Conrad, Lehesjoki, Anna-Elina

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 177 KB

english, 2000

35

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

Alakurtti, Kirsi, Weber, Ekkehard, Rinne, Riitta, Theil, Gerit, Haan, Gerrit-Jan de, Lindhout, Dick, Salmikangas, Paula, Saukko, Pekka, Lahtinen, Ulla, Lehesjoki, Anna-Elina

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 333 KB

english, 2004

36

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

Painter, Jodie N, Savander, Miia, Ropponen, Anne, Nupponen, Nina, Riikonen, Seija, Ylikorkala, Olavi, Lehesjoki, Anna-Elina, Aittomäki, Kristiina

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

37

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

Alakurtti, Kirsi, Weber, Ekkehard, Rinne, Riitta, Theil, Gerit, de Haan, Gerrit-Jan, Lindhout, Dick, Salmikangas, Paula, Saukko, Pekka, Lahtinen, Ulla, Lehesjoki, Anna-Elina

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 50 KB

english, 2005

38

NEW EMBO MEMBER'S REVIEW: Molecular background of progressive myoclonus epilepsy

Lehesjoki, A.-E.

Journal:

The EMBO Journal

Year:

2003

Language:

english

File:

PDF, 136 KB

english, 2003

39

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James P. Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 922 KB

english, 2012

40

Deficient mitochondrial Ca2+ buffering in the Cln8mnd mouse model of neuronal ceroid lipofuscinosis

Julia Kolikova, Ramil Afzalov, Alexander Surin, Anna-Elina Lehesjoki, Leonard Khiroug

Journal:

Year:

2011

Language:

english

File:

PDF, 1.41 MB

english, 2011

41

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis

Mervi Kuronen, Minnamari Talvitie, Anna-Elina Lehesjoki, Liisa Myllykangas

Journal:

Neurobiology of Disease

Year:

2009

Language:

english

File:

PDF, 841 KB

english, 2009

42

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

Mervi Kuronen, Anna-Elina Lehesjoki, Anu Jalanko, Jonathan D. Cooper, Outi Kopra

Journal:

Neurobiology of Disease

Year:

2012

Language:

english

File:

PDF, 4.70 MB

english, 2012

43

INV22 Genetics of progressive myoclonus epilepsies

A.-E. Lehesjoki

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

44

P05.12 The first case of genetically proven variant late-infantile neuronal ceroid lipofuscinosis in Bulgaria harbors the founder CLN7/MFSD8 mutation in Roma

P. Stefanova Dimova, M. Kousi, V. Bojinova, Z. Lukacs, A.-E. Lehesjoki

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

45

146 Muscle-eye-brain disease and classical Walker-Warburg syndrome are two distinct disorders: A molecular genetic and clinical study

B. Cormand, H. Pihko, W. Dobyns, L. Valanne, H. Topaloglu, T. Voit, P. Santavuori, A.-E. Lehesjoki

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 143 KB

english, 1999

46

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8

Wayne A. Mitchell, Ruth B. Wheeler, Julie D. Sharp, S. Louise Bate, R. Mark Gardiner, U. Susanna Ranta, Liina Lonka, Ruth E. Williams, Anna-Elina Lehesjoki, Sara E. Mole

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 887 KB

english, 2001

47

The neuronal ceroid lipofuscinosisCln8gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy

Liina Lonka, Antti Aalto, Outi Kopra, Mervi Kuronen, Zaal Kokaia, Mart Saarma, Anna-Elina Lehesjoki

Journal:

BMC Neuroscience

Year:

2005

Language:

english

File:

PDF, 1.65 MB

english, 2005

48

Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd: implications to delayed myelination and oligodendrocyte maturation

M. Kuronen, M. Hermansson, O. Manninen, I. Zech, M. Talvitie, T. Laitinen, O. Gröhn, P. Somerharju, M. Eckhardt, J. D. Cooper, A.-E. Lehesjoki, U. Lahtinen, O. Kopra

Journal:

Neuropathology and Applied Neurobiology

Year:

2012

Language:

english

File:

PDF, 1.32 MB

english, 2012

49

Hemophilia B: diagnostic value of RFLP analysis in 19 of the 20 known Finnish families

Anna-Elina Lehesjoki, Vesa Rasi, Albert de la Chapelle

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 620 KB

english, 1990

50

Hemophilia A: genetic prediction and linkage studies in all available families in Finland

Anna-Elina Lehesjoki, Pertti Sistonen, Vesa Rasi, Albert de la Chapelle

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 749 KB

english, 1991

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