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Items: 1 to 50 of 129

1.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.

Genet Med. 2019 Jul 18. doi: 10.1038/s41436-019-0609-8. [Epub ahead of print]

PMID:
31316167
2.

Nemaline myopathies: a current view.

Sewry CA, Laitila JM, Wallgren-Pettersson C.

J Muscle Res Cell Motil. 2019 Jun;40(2):111-126. doi: 10.1007/s10974-019-09519-9. Epub 2019 Jun 21.

3.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Ross JA, 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.

Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19.

4.

Pregnancy and Delivery in Women With Congenital Myopathies.

Rudnik-Schöneborn S, Wallgren-Pettersson C.

Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16.

PMID:
31060722
5.

Update on the Genetics of Congenital Myopathies.

Pelin K, Wallgren-Pettersson C.

Semin Pediatr Neurol. 2019 Apr;29:12-22. doi: 10.1016/j.spen.2019.01.005. Epub 2019 Jan 17.

PMID:
31060721
6.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B.

Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20.

PMID:
30679003
7.

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.

Lam LT, Holt I, Laitila J, Hanif M, Pelin K, Wallgren-Pettersson C, Sewry CA, Morris GE.

Sci Rep. 2018 Oct 24;8(1):15728. doi: 10.1038/s41598-018-33281-6.

8.

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region.

Laitila J, Lehtonen J, Lehtokari VL, Sagath L, Wallgren-Pettersson C, Grönholm M, Pelin K.

Muscle Nerve. 2019 Jan;59(1):116-121. doi: 10.1002/mus.26350. Epub 2018 Nov 13.

PMID:
30265400
9.

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC, Balasubramanian M.

Eur J Paediatr Neurol. 2018 Nov;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002. Epub 2018 Aug 27.

10.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

11.

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Rogers A, Golumbek P, Cellini E, Doccini V, Guerrini R, Wallgren-Pettersson C, Thuresson AC, Gurnett CA.

Am J Med Genet A. 2018 Aug;176(8):1748-1752. doi: 10.1002/ajmg.a.38840. Epub 2018 Jul 28.

PMID:
30055040
12.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K.

J Neuromuscul Dis. 2018;5(3):307-314. doi: 10.3233/JND-170298.

13.

Ethics in genetic counselling.

Clarke AJ, Wallgren-Pettersson C.

J Community Genet. 2019 Jan;10(1):3-33. doi: 10.1007/s12687-018-0371-7. Epub 2018 Jun 14. Review.

14.

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

Strang-Karlsson S, Johnson K, Töpf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C.

Neuromuscul Disord. 2018 Jul;28(7):614-618. doi: 10.1016/j.nmd.2018.04.012. Epub 2018 May 16.

PMID:
29910097
15.

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.

Costantini A, Wallgren-Pettersson C, Mäkitie O.

Eur J Med Genet. 2018 Oct;61(10):612-615. doi: 10.1016/j.ejmg.2018.04.004. Epub 2018 Apr 14.

PMID:
29660408
16.

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.

Lehtokari VL, Gardberg M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2018 Apr;28(4):323-326. doi: 10.1016/j.nmd.2017.12.009. Epub 2017 Dec 25.

PMID:
29433794
17.

Myopathology in congenital myopathies.

Sewry CA, Wallgren-Pettersson C.

Neuropathol Appl Neurobiol. 2017 Feb;43(1):5-23. doi: 10.1111/nan.12369. Review.

PMID:
27976420
18.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

19.

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

Malfatti E, Monges S, Lehtokari VL, Schaeffer U, Abath Neto O, Kiiski K, Lubieniecki F, Taratuto AL, Wallgren-Pettersson C, Laporte J, Romero NB.

Eur J Med Genet. 2015 Oct;58(10):556-61. doi: 10.1016/j.ejmg.2015.09.009. Epub 2015 Sep 25.

PMID:
26403434
20.

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy.

Kiiski K, Lehtokari VL, Manzur AY, Sewry C, Zaharieva I, Muntoni F, Pelin K, Wallgren-Pettersson C.

J Neuromuscul Dis. 2015 Sep 21;2(4):433-438.

21.

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

Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K.

Eur J Hum Genet. 2016 Apr;24(4):574-80. doi: 10.1038/ejhg.2015.166. Epub 2015 Jul 22.

22.

Clinical utility gene card for: Nemaline myopathy - update 2015.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG.

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.12. Epub 2015 Feb 25. No abstract available.

23.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

24.

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 K, Kiiski K, Lehtokari VL, Wallgren-Pettersson C.

J Hum Genet. 2015 Mar;60(3):161-2. doi: 10.1038/jhg.2014.120. Epub 2015 Jan 15. No abstract available.

PMID:
25589043
25.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

26.

Mutation update: the spectra of nebulin variants and associated myopathies.

Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C.

Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693.

27.

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

Marttila M, Hanif M, Lemola E, Nowak KJ, Laitila J, Grönholm M, Wallgren-Pettersson C, Pelin K.

Skelet Muscle. 2014 Aug 1;4:15. doi: 10.1186/2044-5040-4-15. eCollection 2014.

28.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB.

Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44.

29.

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, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

30.

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, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH.

Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21.

31.

198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands.

Jungbluth H, Wallgren-Pettersson C, Laporte JF; Centronuclear (Myotubular) myopathy Consortium.

Neuromuscul Disord. 2013 Dec;23(12):1033-43. doi: 10.1016/j.nmd.2013.08.006. Epub 2013 Aug 29. No abstract available.

PMID:
24070817
32.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.

Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.

33.

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 CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF.

Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31.

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 VL, Lunkka-Hytönen M, Angelini C, Petty R, Hackman P, Wallgren-Pettersson C, Pelin K.

Neuromuscul Disord. 2013 Jan;23(1):56-65. doi: 10.1016/j.nmd.2012.07.007. Epub 2012 Sep 23.

PMID:
23010307
35.

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

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.

Muscle Nerve. 2012 Nov;46(5):730-7. doi: 10.1002/mus.23380. Epub 2012 Aug 31.

PMID:
22941678
36.

Mutations in the nebulin gene in a child with nemaline (rod) myopathy.

Kapoor S, Singh A, Lehtokari VL, Wallgren-Pettersson C, Batra VV.

Indian J Pediatr. 2013 Aug;80(8):691-3. doi: 10.1007/s12098-012-0867-9. Epub 2012 Sep 2.

PMID:
22941215
37.

Clinical utility gene card for: nemaline myopathy.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG.

Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.70. Epub 2012 Apr 18. No abstract available.

38.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.

39.

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

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E.

Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905.

PMID:
22367672
40.

Nemaline myopathies.

Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG.

Semin Pediatr Neurol. 2011 Dec;18(4):230-8. doi: 10.1016/j.spen.2011.10.004. Review.

PMID:
22172418
41.

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Grönholm M, Wallgren-Pettersson C.

Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030.

42.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.

Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.

43.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH.

Skelet Muscle. 2011 Jun 20;1(1):23. doi: 10.1186/2044-5040-1-23.

44.

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

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.

Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.

PMID:
21724397
45.

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

Ochala J, Lehtokari VL, Iwamoto H, Li M, Feng HZ, Jin JP, Yagi N, Wallgren-Pettersson C, Pénisson-Besnier I, Larsson L.

FASEB J. 2011 Jun;25(6):1903-13. doi: 10.1096/fj.10-176727. Epub 2011 Feb 24.

46.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.

Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7.

PMID:
20927630
47.

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.

Melberg A, Kretz C, Kalimo H, Wallgren-Pettersson C, Toussaint A, Böhm J, Stålberg E, Laporte J.

Neuromuscul Disord. 2010 Jan;20(1):53-6. doi: 10.1016/j.nmd.2009.10.006. Epub 2009 Nov 22.

PMID:
19932619
48.

Core-rod myopathy caused by mutations in the nebulin gene.

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.

Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45. No abstract available.

PMID:
19805734
49.

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands.

Jungbluth H, Wallgren-Pettersson C, Laporte JF; Centronuclear (Myotubular) Myopathy Consortium.

Neuromuscul Disord. 2009 Oct;19(10):721-9. doi: 10.1016/j.nmd.2009.06.373. Epub 2009 Aug 14. No abstract available.

PMID:
19683444
50.

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].

Bojdo A, Obersztyn E, Wallgren-Pettersson C, Lehtokari V, Laing N, Davis M, Kułakowska Z.

Med Wieku Rozwoj. 2009 Jan-Mar;13(1):5-10. Polish.

PMID:
19648653

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