Äldre forskare:

Vilma-Lotta Lehtokari, PhD

Kirsi Kiiski, PhD

Affilierade äldre forskare :

Docent Mikaela Grönholm, PhD

Post-doc forskare:

Jenni Laitila, PhD

Doktorander:

Lydia Sagath, MSc

Johanna Lehtonen, MSc

Övrig personal:

Marilotta Turunen, forskningsassistent

Fanny Rostedt, BSc, forskningsassistent

Sagath L, Lehtokari VL, Välipakka S, Vihola A, Gardberg M, Hackman P, Pelin K, Jokela M, Kiiski K, Udd B, Wallgren-Pettersson C. Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin. Neuromuscul Disord. 2021 Jun;31(6):539-545.

Laitila J, McNamara EL, Wingate CD, Goullee H, Ross JA, Taylor RL, van der Pijl R, Griffiths L, Harries R, Ravenscroft G, Clayton JS, Sewry C, Lawlor MW, Ottenheijm CAC, Bakker AJ, Ochala J, Laing NG, Wallgren-Pettersson C, Pelin K, Nowak KJ: Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. Acta Neuropathol Commun. 2020;8(1):18.

Laitila J, Lehtonen J, Lehtokari VL, Sagath L, Wallgren-Pettersson C, Grönholm M, Pelin K: A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region. Muscle Nerve. 2019;59(1):116-121.

Clarke AJ, Wallgren-Pettersson C: Ethics in genetic counselling. J Community Genet. 2019;10(1):3-33.

Kiiski K*, Lehtokari VL*, Vihola A, Laitila J, Huovinen S, Sagath L, Evilä A, Paetau A, Sewry C, Hackman P, Pelin K, Wallgren-Pettersson C, Udd B: Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. NMD. 2019;29(2):97-107.

Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K: A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. Eur J Hum Genet. 2016;24(4):574-580.

Lehtokari V-L, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs A, Clarke NF, North KN, Laing, NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C: Mutation update: the spectrum of nebulin variants and associated myopathies. Human Mutat. 2014;35:1418-1426.

Marttila M*, Hanif M*, Lemola E, Nowak KJ, Laitila J, Grönholm M, Wallgren-Pettersson C, Pelin K: Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. Skelet Muscle. 2014;4:15.

Kiiski K, Laari L, Lehtokari V-L, Lunkka-Hytönen M, Angelini C, Petty R, Hackman P, Wallgren-Pettersson C, Pelin K: Targeted array CGH - a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes. Neuromuscul. Disord. 2013;23:56-65.

Laitila J*, Hanif M*, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K: Expression of multiple nebulin isoforms in human brain. Muscle & Nerve. 2012;46:730-737.

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Neuromuscul. Disord. 2011;21:556-562.

Lehtokari V-L*, Greenleaf RS*, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C: The exon 55 deletion in the nebulin gene - one single founder mutation with world-wide occurrence. Neuromuscul. Disord. 2009;19:179-181.

Romero NB*, Lehtokari VL*, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C. Core-rod myopathy caused by mutations in the nebulin gene. Neurology. 2009;73(14):1159-61.

Wallgren-Pettersson C, Lehtokari V-L, Kalimo H, Paetau A, Hackman P, Sewry C, Pelin K, Udd B: Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007;130:1465-1476.

Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C: Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007;17:433-442.

Donner K, Sandbacka M, Lehtokari V-L, Wallgren-Pettersson C, Pelin K: Complete genomic structure of the human nebulin gene and identification of alternatively spliced isoforms. Eur. J. Hum. Genet. 2004;12:744-51.

Donner K, Ollikainen M, Ridanpää M, Christen H-J, Goebel HH, de Visser M, Pelin K, Wallgren Pettersson C: Mutations in the β-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy. Neuromuscul. Disord. 2002;12:151-158.

Pelin K, Hilpelä P, Sewry C , Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang M-L, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc. Natl. Acad. Sci. USA 1999;96:2305-2310

Wallgren-Pettersson C, Pelin K, Hilpelä, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A: Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 1999;9:564-572.

The Folkhälsan Research Foundation

The Finska Läkaresällskapet (Medical Society of Finland)

The Magnus Ehrnrooth Foundation

The Medicinska Understödsföreningen Liv och Hälsa (Life and Health Medical Fund)

The Oskar Öflund Foundation

The Otto Malm Foundation

The University of Helsinki

A Foundation Building Strength for Nemaline Myopathy

Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkléns minne

Svenska kulturfonden

Waldemar von Frenckells stiftelse

The Distal Myopathy Group of Prof. Bjarne Udd, University Hospital of Tampere, Finland.

Stephan Lange Research laboratory, UC San Diego, California, USA

Prof. Nigel Laing and Dr. Kristen Nowak, Harry Perkins Institute, Perth, Australia

Associate prof. Julien Ochala, University of Copenhagen

Prof. Janna Saarela, Institute for Molecular Medicine Finland, Helsinki, and Centre for Molecular Medicine Norway, Oslo

The International Consortium on Nemaline Myopathy

Sinikka Hiekkala, the Finnish Association of Disabled People/Invalidiliitto ry