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Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Laitila JM, McNamara EL, Wingate CD, et al.
Acta neuropathologica communications, 2020, 8, 1, p 18
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands
Neuhaus SB, Wallgren-Pettersson C, BÃ nnemann CG, et al.
Neuromuscular disorders : NMD, 2020
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA, Levy Y, Ripolone M, et al.
Acta neuropathologica, 2019
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
Journal of muscle research and cell motility, 2019
Pregnancy and Delivery in Women With Congenital Myopathies
Rudnik-Schöneborn S, Wallgren-Pettersson C
Seminars in pediatric neurology, 2019, 29, p 23
Update on the Genetics of Congenital Myopathies.
Pelin K, Wallgren-Pettersson C
Seminars in pediatric neurology, 2019, 29, p 12
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene
Kiiski KJ, Lehtokari VL, Vihola AK, et al.
Neuromuscular disorders : NMD, 2019, 29, 2, p 97
Myopathology in Congenital Myopathies
Sewry CA, Wallgren-Pettersson C
Neuropathology and applied neurobiology, 2017, 43, 1, p 5
Mutation-specific effects on thin filament length in thin filament myopathy
Winter JM, Joureau B, Lee EJ, et al.
Annals of neurology, 2016, 79, 6, p 959
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy
Malfatti E, Monges S, Lehtokari VL, et al.
European journal of medical genetics, 2015, 58, 10, p 556
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E, Lehtokari VL, Böhm J, et al.
Acta neuropathologica communications, 2014, 2, 44, 14 p
Mutation update: the spectra of nebulin variants and associated myopathies
Lehtokari VL, Kiiski K, Sandaradura SA, et al.
Human mutation, 2014, 35, 12, p 1418
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
Marttila M, Lehtokari VL, Marston S, et al.
Human mutation, 2014, 35, 7, p 779
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Yuen M, Sandaradura SA, Dowling JJ, et al.
The Journal of clinical investigation, 2014, 124, 11, p 4693
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
Ravenscroft G, Miyatake S, Lehtokari VL, et al.
American journal of human genetics (The), 2013, 93, 1, p 6
Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta VA, Ravenscroft G, Shaheen R, et al.
American journal of human genetics (The), 2013, 93, 6, p. 1108-1117
Mutations in the nebulin gene in a child with nemaline (rod) myopathy
Kapoor S, Singh A, Lehtokari VL, et al.
Indian journal of pediatrics, 2013, 80, 8, p 691
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 VL, et al.
Neuromuscular disorders : NMD, 2013, 23, 1, p 56
198th ENMC International Workshop : 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands
Collectif, Jungbluth H, Wallgren-Pettersson C, et al.
Neuromuscular disorders : NMD, 2013, 23, 12, p. 1033-1043
Abnormal actin binding of aberrant beta-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline myopathy and cap myopathy
Marttila M, Lemola E, Wallefeld W, et al.
Biochemical journal, 2012, 442, 1, p. 231-239
Clinical utility gene card for: Nemaline myopathy
Nowak KJ, Davis MR, Wallgren-Pettersson C, et al.
European journal of human genetics, 2012, 20, 6, p. e1-e4
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Böhm J, Biancalana V, DeChene ET, et al.
Human mutation, 2012, 33, 6, p. 949-959
Myopathies distales : à propos d'une étude rétrospective
Collectif, Franques J, Attarian S, et al.
Revue neurologique (Paris), 2012, 168, Supplt 1, p. S15
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Toussaint A, Cowling BS, Hnia K, et al.
Acta neuropathologica, 2011, 121, 2, p 253
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy
Ochala J, Lehtokari VL, Iwamoto H, et al.
FASEB journal (The), 2011, 25, 6, p 1903
