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Auteur Wallgren-Pettersson C |
Documents disponibles écrits par cet auteur



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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
Revue : Acta neuropathologica communications, 8, 1 Titre : Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb Type de document : Article Auteurs : Laitila JM, Auteur ; McNamara EL ; Wingate CD ; Goullee H ; Ross JA ; Taylor RL ; van der Pijl R ; Griffiths LM ; 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 Editeur : England Année de publication : 02/2020 Pages : p 18 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32066503 / DOI : 10.1186/s40478-020-0893-1
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32066503 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neuromuscular disorders : NMD Titre : 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands Type de document : Article Auteurs : Neuhaus SB ; Wallgren-Pettersson C ; BÃ nnemann CG ; Schara U ; Servais L Editeur : England Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32919842 / DOI : 10.1016/j.nmd.2020.08.356
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32919842 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA, Levy Y, Ripolone M, et al.
Acta neuropathologica, 2019
Revue : Acta neuropathologica Titre : Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy. Type de document : Article Auteurs : Ross JA, Auteur ; Levy Y ; Ripolone M ; Kolb JS ; Turmaine M ; Holt M ; Lindqvist J ; Claeys KG ; Weis J ; Monforte M ; Tasca G ; Moggio M ; Figeac N ; Zammit PS ; Jungbluth H ; Fiorillo C ; Vissing J ; Witting N ; Granzier H ; Zanoteli E ; Hardeman EC ; Wallgren-Pettersson C ; Ochala J Editeur : Germany Année de publication : 06/2019 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31218456 / DOI : 10.1007/s00401-019-02034-8
N° Profil MNM : 2019062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31218456 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C
Journal of muscle research and cell motility, 2019
Revue : Journal of muscle research and cell motility Titre : Nemaline myopathies: a current view. Type de document : Article Auteurs : Sewry CA, Auteur ; Laitila JM ; Wallgren-Pettersson C Editeur : Netherlands Année de publication : 06/2019 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31228046 / DOI : 10.1007/s10974-019-09519-9
N° Profil MNM : 2019062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31228046 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Pregnancy and Delivery in Women With Congenital Myopathies
Rudnik-Schöneborn S, Wallgren-Pettersson C
Seminars in pediatric neurology, 2019, 29, p 23
Revue : Seminars in pediatric neurology, 29 Titre : Pregnancy and Delivery in Women With Congenital Myopathies Type de document : Article Auteurs : Rudnik-Schöneborn S, Auteur ; Wallgren-Pettersson C Année de publication : 04/2019 Pages : p 23 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.spen.2019.01.006 / Pubmed : 31060722
N° Profil MNM : 2019051 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31060722 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Update on the Genetics of Congenital Myopathies.
Pelin K, Wallgren-Pettersson C
Seminars in pediatric neurology, 2019, 29, p 12
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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
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Myopathology in Congenital Myopathies
Sewry CA, Wallgren-Pettersson C
Neuropathology and applied neurobiology, 2017, 43, 1, p 5
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Myopathies distales : à propos d'une étude rétrospective
Collectif, Franques J, Attarian S, et al.
Revue neurologique (Paris), 2012, 168, Supplt 1, p. S15
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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
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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
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