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Neuromuscular Disorders : NMD|September 25, 2021
Recent advances in nemaline myopathyJenni Laitila, Carina Wallgren-Pettersson
European Journal of Human Genetics : EJHG|July 23, 2015
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH arrayKirsi Kiiski, Vilma-Lotta Lehtokari, Ari Löytynoja, et al.
Muscle & Nerve|September 29, 2018
A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat regionJenni Laitila, Johanna Lehtonen, Vilma-Lotta Lehtokari, et al.
Skeletal Muscle|August 12, 2014
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutationsMinttu Marttila, Mubashir Hanif, Elina Lemola, et al.
Scientific Reports|October 26, 2018
Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulationLe Thanh Lam, Ian Holt, Jenni Laitila, et al.
Muscle & Nerve|September 4, 2012
Expression of multiple nebulin isoforms in human skeletal muscle and brainJenni Laitila, Mubashir Hanif, Anders Paetau, et al.
The Journal of Physiology|May 5, 2025
Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle studyRobert A E Seaborne, Roger Moreno-Justicia, Jenni Laitila, et al.
Journal of Neuromuscular Diseases|May 21, 2025
A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case reportMilla Laarne, Ali Oghabian, Jenni Laitila, et al.
The Journal of Physiology|August 31, 2024
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscleJenni Laitila, Robert A E Seaborne, Natasha Ranu, et al.
The Journal of Physiology|May 5, 2025
Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractilityJenni Laitila, Christopher T A Lewis, Anthony L Hessel, et al.
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