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1

Other specified and unspecified feeding or eating disorders among women in the community

Mustelin, Linda, Lehtokari, Vilma-Lotta, Keski-Rahkonen, Anna

Journal:

International Journal of Eating Disorders

Year:

2016

Language:

english

File:

PDF, 233 KB

english, 2016

2

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

Hagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, Shlomit Eisenberg-Barzilai, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Lakshmi Mehta, Reuven Achiron, Yinon Gilboa, Sylvie Polak-Charcon,

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 195 KB

english, 2012

3

Determination of ATP from compost using the firefly bioluminescence technique

Markku Lehtokari, Pekka Nikkola, Jaakko Paatero

Journal:

Applied Microbiology and Biotechnology

Year:

1983

Language:

english

File:

PDF, 348 KB

english, 1983

4

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Lehtokari, Vilma-Lotta, Kiiski, Kirsi, Sandaradura, Sarah A., Laporte, Jocelyn, Repo, Pauliina, Frey, Jennifer A., Donner, Kati, Marttila, Minttu, Saunders, Carol, Barth, Peter G., den Dunnen, Johan T

Journal:

Year:

2014

Language:

english

File:

PDF, 849 KB

english, 2014

5

MPA, a Free, Accessible, and Efficient Pipeline for Single Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Yauy, Kevin, Baux, David, Pegeot, Henri, Van Goethem, Charles, Mathieu, Charly, Guignard, Thomas, Morales, Raul Juntas, Lacourt, Delphine, Krahn, Martin, Lehtokari, Vilma-Lotta, Bonne, Gisele, Tuffery

Journal:

The Journal of Molecular Diagnostics

Year:

2018

File:

PDF, 799 KB

2018

6

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Vilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, Salla Ranta, Kati Donner, Francesco Muntoni, Caroline Sewry, Corrado Angelini, Kate Bushby, Peter Van den Bergh, Susan Iannaccone, Nigel G. Lain

Journal:

Year:

2006

Language:

english

File:

PDF, 375 KB

english, 2006

7

Novel mutations inNEBcause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Michael W Lawlor, Coen A Ottenheijm, Vilma-Lotta Lehtokari, Kiyomi Cho, Katarina Pelin, Carina Wallgren-Pettersson, Henk Granzier, Alan H Beggs

Journal:

Skeletal Muscle

Year:

2011

Language:

english

File:

PDF, 1.77 MB

english, 2011

8

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Lehtokari, Vilma-Lotta, Pelin, Katarina, Donner, Kati, Voit, Thomas, Rudnik-Schöneborn, Sabine, Stoetter, Mechthild, Talim, Beril, Topaloglu, Haluk, Laing, Nigel G, Wallgren-Pettersson, Carina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 268 KB

english, 2008

9

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts

Donner, Kati, Sandbacka, Maria, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Pelin, Katarina

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 305 KB

english, 2004

10

A Battery of Toxicity Tests as Indicators of Decontamination in Composting Oily Waste

Risto Juvonen, Esko Martikainen, Eija Schultz, Anneli Joutti, Jukka Ahtiainen, Markku Lehtokari

Journal:

Ecotoxicology and Environmental Safety

Year:

2000

Language:

english

File:

PDF, 330 KB

english, 2000

11

Spectrophotometric titrations of pyridoxal Schiff's bases in methanol using glass electrode for control of acidity

M. Lehtokari, J. Puisto, R. Raunio, T. Korpela

Journal:

Archives of Biochemistry and Biophysics

Year:

1980

Language:

english

File:

PDF, 633 KB

english, 1980

12

G.P.8 01 Development of the multiplex ligation-dependent probe amplification (MLPA) method for the detection of large deletions in the nebulin gene

V.L. Lehtokari, K. Pelin, E. Nuutinen, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

13

Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2

Vilma-Lotta Lehtokari, Chantal Ceuterick-de Groote, Peter de Jonghe, Minttu Marttila, Nigel G. Laing, Katarina Pelin, Carina Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1.67 MB

english, 2007

14

C.P.1.08 A homozygous deletion of TPM3 causing severe nemaline myopathy in two Turkish sib pairs from separate families

V. Lehtokari, K. Pelin, K. Donner, T. Voit, S. Rudnik-Schöneborn, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

15

G.P.9.04 Development of the multiplex ligation-dependent probe amplification (MLPA) method for identifying large scale mutations in the nebulin gene

M. Lunkka-Hytonen, V.L. Lehtokari, K. Pelin, D. Brudzewsky, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 49 KB

english, 2008

16

G.P.9.03 Characterization of the nebulin promoter and detection of brain-specific transcripts

S.A. Ranta, V.L. Lehtokari, E. Nuutinen, D. Brudzewsky, C. Wallgren-Pettersson, K. Pelin

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

17

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

Vilma-Lotta Lehtokari, Rebecca S. Greenleaf, Elizabeth T. DeChene, Mutsumi Kellinsalmi, Katarina Pelin, Nigel G. Laing, Alan H. Beggs, Carina Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 129 KB

english, 2009

18

G.P.7.03 Mutations in TPM2 and TPM3 causing nemaline myopathy or arthrogryposis

V.L. Lehtokari, H. Kalimo, K. Pelin, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

19

G.P.7.01 Analysis of the nebulin gene by multiplex-ligation dependent probe amplification (MLPA) and methylation-specific MLPA

M. Lunkka-Hytönen, V.L. Lehtokari, C. Wallgren-Pettersson, K. Pelin

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

20

P1.40 dHLPC for mutation analysis of β- and α(slow)-tropomyosins (TPM2 and TPM3)

V.L. Lehtokari, K. Pelin, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

21

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

Vilma-Lotta Lehtokari, Katarina Pelin, Agnes Herczegfalvi, Veronika Karcagi, Jean Pouget, Jerôme Franques, Jean François Pellissier, Dominique Figarella-Branger, Maja von der Hagen, Angela Huebner, Be

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

22

Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

Pankaj B. Agrawal, Rebecca S. Greenleaf, Kinga K. Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Nigel G. Laing, Basil T. Darras, Sutherland K. Maciver, Philip R. Dormi

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.74 MB

english, 2007

23

D.P.13 Targeted array CGH analysis of the nebulin gene: Identification of large deletions causing nemaline myopathy

Kiiski, K., Lehtokari, V.L., Laari, L., Lunkka-Hytönen, M., Angelini, C., Petty, R., Hackman, P., Udd, B., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

24

C.P.18 Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain or loss of function

Memo, M., Clarke, N.F., Laing, N.G., Nowak, K.J., Ravenscroft, G., Sewry, C., Jain, R., Jayawant, S., Lehtokari, V.L., Marttila, M., Wallgren-Pettersson, C., Marston, S.B.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

25

C.P.13 The clinical spectrum of entities caused by mutations in the nebulin gene

Lehtokari, V.L., Kiiski, K., Pelin, K., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

26

C.P.16 Mutations in the β-tropomyosin (TPM2) and γ-tropomyosin (TPM3) genes causing a spectrum of neuromuscular disorders

Marttila, M., Lehtokari, V.-L., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

27

Mutations in the Nebulin Gene in a Child with Nemaline (Rod) Myopathy

Seema Kapoor, Ankur Singh, Vilma-Lotta Lehtokari…

Journal:

Indian Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 108 KB

english, 2013

28

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hiroto

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.45 MB

english, 2013

29

P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy

Malfatti, E., Lehtokari, V.L., Schaeffer, U., Bohm, J., Estournet, B., Quijano-Roy, S., Monges, S., Lubieniecki, F., Bellance, R., Taratuto, A.L., Eymard, B., Fardeau, M., Wallgren-Pettersson, C., Lap

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

30

Skeletal Muscle Myopathy Mutations at the Actin-Tropomyosin Interface that Cause Gain Or Loss of Function

Memo, Massimilano, Clarke, Nigel F., Laing, Nigel G., Nowak, Kristen J., Ravenscroft, Gianina, Sewry, Caroline, Jain, Rakesh K., Jaywant, Sandeep, Lehtokari, Vilma-Lotta, Marttila, Mintuu, Wallgren-Pe

Journal:

Biophysical Journal

Year:

2012

Language:

english

File:

PDF, 89 KB

english, 2012

31

Myopathies distales : à propos d’une étude rétrospective

Campana-Salort, E., Franques, J., Attarian, S., Verschueren, A., Maues de Paula, A., Eymard, B., Fernandez, C., Suominen, T., Penttilä, S., Richard, P., Monnier, N., Lehtokari, V.-L., Wallgren-Petters

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 198 KB

french, 2012

32

P.9.8 Nemaline myopathy: Mutations in alternatively spliced exons of the nebulin gene

Lehtokari, V.L., Laitila, J., Hanif, M., Pelin, K., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

33

Muscle histopathology innebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Malfatti, Edoardo, Lehtokari, Vilma-Lotta, Böhm, Johann, De Winter, Josine M, Schäffer, Ursula, Estournet, Brigitte, Quijano-Roy, Susana, Monges, Soledad, Lubieniecki, Fabiana, Bellance, Remi, Viou, M

Journal:

Acta Neuropathologica Communications

Year:

2014

Language:

english

File:

PDF, 651 KB

english, 2014

34

Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Kiiski, K., Laari, L., Lehtokari, V.-L., Lunkka-Hytönen, M., Angelini, C., Petty, R., Hackman, P., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.21 MB

english, 2013

35

G.P.266

Kiiski, K., Lehtokari, V.L., Laari, L., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

36

G.O.2

Kreissl, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 64 KB

english, 2014

37

G.P.274

Laitila, J., Lehtokari, V.L., Kiiski, K., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

38

G.P.270

Lehtokari, V.L., Kiiski, K., Pelin, K., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

39

G.P.271

Marttila, M., Lehtokari, V.L., Marston, S.B., Nyman, T.A., Barnerias, C., Beggs, A.H., Bertin, E., Ceyhan-Birsoy, Ö., Cintas, P., Gerard, M., Gilbert-Dussardier, B., Hogue, J.S., Longman, C., Eymard,

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

40

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardi

Journal:

Year:

2014

Language:

english

File:

PDF, 1.62 MB

english, 2014

41

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Pelin, Katarina, Kiiski, Kirsi, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 109 KB

english, 2015

42

Distal myopathy caused by homozygous missense mutations in the nebulin gene

Wallgren-Pettersson, C., Lehtokari, V.-L., Kalimo, H., Paetau, A., Nuutinen, E., Hackman, P., Sewry, C., Pelin, K., Udd, B.

Journal:

Year:

2007

Language:

english

File:

PDF, 789 KB

english, 2007

43

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy

Ochala, J., Lehtokari, V.-L., Iwamoto, H., Li, M., Feng, H.-Z., Jin, J.-P., Yagi, N., Wallgren-Pettersson, C., Penisson-Besnier, I., Larsson, L.

Journal:

The FASEB Journal

Year:

2011

Language:

english

File:

PDF, 1.23 MB

english, 2011

44

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

Romero, N. B., Lehtokari, V. -L., Quijano-Roy, S., Monnier, N., Claeys, K. G., Carlier, R. Y., Pellegrini, N., Orlikowski, D., Barois, A., Laing, N. G., Lunardi, J., Fardeau, M., Pelin, K., Wallgren-P

Journal:

Year:

2009

Language:

english

File:

PDF, 1.56 MB

english, 2009

45

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array

Kiiski, Kirsi, Lehtokari, Vilma-Lotta, Löytynoja, Ari, Ahlstén, Liina, Laitila, Jenni, Wallgren-Pettersson, Carina, Pelin, Katarina

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.05 MB

english, 2015

46

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C. M., Marttila, M., Lehtokari, V.-L., Lemola, E., Gronholm, M., Yang, N., Menard, D., Marcorelles, P., Echaniz-Laguna, A., Reimann, J., Vain

Journal:

Year:

2013

Language:

english

File:

PDF, 883 KB

english, 2013

47

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy

Malfatti, Edoardo, Monges, Soledad, Lehtokari, Vilma-Lotta, Schaeffer, Ursula, Abath Neto, Osorio, Kiiski, Kirsi, Lubieniecki, Fabiana, Taratuto, Ana Lía, Wallgren-Pettersson, Carina, Laporte, Jocelyn

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 4.02 MB

english, 2015

48

Functional assessment of nebulin missense variants

Laitila, J., Marttila, M., Lehtokari, V., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

49

Functional studies of YBX3 variants associated with nemaline myopathy

Sagath, L., Laitila, J., Lehtokari, V., Kiiski, K., Grönholm, M., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

50

ACTA1-related mild or typical nemaline myopathy in a three-generation Finnish family

Lehtokari, V., Pelin, K., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

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