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O.14 Biocompatible nanoparticles as slow-release delivery system of 2′OMePS AON administered both intraperitoneally and orally in the mdx mice: dystrophin rescue and nanoparticles biodistribution

JOURNAL ARTICLE published October 2011 in Neuromuscular Disorders

Authors: A. Ferlini | P. Rimessi | E. Bassi | M.S. Falzarano | M. Fabris | D. Perrone | P. Sabatelli | N.M. Maraldi | K. Sparnacci | M. Laus | P. Bonaldo | P. Braghetta

G.P.106

JOURNAL ARTICLE published October 2014 in Neuromuscular Disorders

Authors: G.L. Elfring | A. Reha | R. Spiegel | S.W. Peltz | C. McDonald

P.P.2 02 Aberrant DMPK expression in DM1 and DM2 patients

JOURNAL ARTICLE published October 2006 in Neuromuscular Disorders

Authors: O. Raheem | J. Holmlund-Hampf | T. Suominen | A. Vihola | H. Haapasalo | R. Krahe | B. Udd

Clinical orphan patient pool methodology estimates current patient pool in centronuclear myopathy

JOURNAL ARTICLE published October 2017 in Neuromuscular Disorders

Authors: I. Vandersmissen | G. Vander Stichele | V. Biancalana | L. Thielemans

WMS online application form

JOURNAL ARTICLE published February 2011 in Neuromuscular Disorders

P2.19 Desmin-related myopathies: Effects of a cyclic mechanical stress on the aggregation of desmin in transfected myoblasts

JOURNAL ARTICLE published October 2010 in Neuromuscular Disorders

Authors: E. Leccia | A. Tarze | F. Delort | S. Batonnet-Pichon | P. Vicart | F. Briki

P.399The international spinal muscular atrophy (SMA) registry: longitudinal collection and refinement of outcome measures for spinal muscular atrophy

JOURNAL ARTICLE published October 2019 in Neuromuscular Disorders

Authors: M. Scoto | F. Muntoni | S. Hall | S. Eaton | A. Rashid | J. Avendano | S. Samsuddin | J. Balashkina | R. Finkel | E. Mercuri

Thromboembolic risk in inflammatory neuromuscular disease patients on long-term IVIg

JOURNAL ARTICLE published March 2017 in Neuromuscular Disorders

Authors: J. Spillane | C. Englezou | S. Sarri-Gonzales | A.M. Rossor | M.P. Lunn | J. Manji | M.M. Reilly | A.S. Carr

Variability of clinical expression in familial amyloid polyneuropathy

JOURNAL ARTICLE published February 1996 in Neuromuscular Disorders

Authors: Teresa Coelho

P66 iPS cells and human artificial chromosomes: novel therapeutic tools for muscle disorders

JOURNAL ARTICLE published March 2014 in Neuromuscular Disorders

Authors: F.S. Tedesco | S. Benedetti | M.F.M. Gerli | H. Hoshiya | S.M. Maffioletti | M. Ragazzi | T. Casteels | Y. Kazuki | G. Messina | M. Oshimura | G. Cossu

P.367Comparative analysis of single stranded rAAV vectors expressing human SMN1 in correcting spinal muscular atrophy in mice

JOURNAL ARTICLE published October 2019 in Neuromuscular Disorders

Authors: M. Marinello | J. Denard | V. Latournerie | D. Bonnin | J. Cosette | S. Martin | A. Buj-Bello

G.P.13.10 High frequency of polymorphisms in the RYR1 gene in Brazilian patients with centronuclear myopathy

JOURNAL ARTICLE published October 2008 in Neuromuscular Disorders

Authors: L.U. Yamamoto | L.S. Maia | D. Ayub-Guerrieri | P.C.G. Onofre | V.F. Lopes | D. Zilberztajn | P.C.M. Martins | A.S. Senkevics | A.L.F. Santos | K. Sell | M. Zatz | H.C. Silva | J. Gurgel-Gianneti | M. Vainzof

G.P.23 Phenotypic variability and survey in a series of Bethlem myopathy

JOURNAL ARTICLE published October 2012 in Neuromuscular Disorders

Authors: N. Deconinck | P. Richard | V. Allamand | A. Behin | P. Lafôret | A. Ferreiro | C. Ledeuil | C. Gartioux | R.Y. Carlier | P. Carlier | N.B. Romero | B. Eymard | T. Stojkovic

Severe Walker–Warburg syndrome associated with new mutation in ISPD gene identified with whole exome sequencing

JOURNAL ARTICLE published October 2016 in Neuromuscular Disorders

Authors: A. Kaçar Bayram | H. Per | H. Gumus | S. Kumandas | A. Çağlayan

P68 A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations

JOURNAL ARTICLE published March 2012 in Neuromuscular Disorders

Authors: J.W. Yarham | J.L. Elson | R.W. Taylor | R. McFarland

Neuromuscular disorders: Gene location

JOURNAL ARTICLE published December 1996 in Neuromuscular Disorders

The impact of the national population carrier screening program on reducing birth rates of patients with spinal muscular atrophy

JOURNAL ARTICLE published October 2017 in Neuromuscular Disorders

Authors: S. Aharoni | Y. Nevo | N. Orenstein | L. Basel-Vanagaite | H. Mussaffi | A. Singer

P1.7 Early death following minor trauma in Duchenne muscular dystrophy

JOURNAL ARTICLE published October 2011 in Neuromuscular Disorders

Authors: L.C. McAdam | K. Macleod | J. Vajsar | W.D. Biggar | A. Rastogi

P2.46 Myogenin expression is decreased in biopsied muscles of sporadic inclusion body myositis

JOURNAL ARTICLE published October 2010 in Neuromuscular Disorders

Authors: A.K. Kubota | H.K. Kowa | A.I. Iwata | J.S. Shimuzu | S.T. Tsuji

EM.P.2.13 Overexpression of LARGE strongly increases laminin binding of α-dystroglycan but does not exhibit toxic effects in mice

JOURNAL ARTICLE published September 2009 in Neuromuscular Disorders

Authors: F. Saito | Z. Xin | M. Ikeda | H. Hagiwara | T. Shimizu | K. Matsumura