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Parkinson's disease (advances in neurology, volume 69

JOURNAL ARTICLE published October 1996 in Neuromuscular Disorders

Authors: Brian Pentland

EM.I.3 Muscle and its extracellular matrix: Genetic disorders of the “Myomatrix”

JOURNAL ARTICLE published September 2009 in Neuromuscular Disorders

Authors: C.G. Bonnemann

Book review

JOURNAL ARTICLE published October 1998 in Neuromuscular Disorders

Inhibition of the tyrosine phosphatase Shp2 alleviates the pathogeniceff ects of MuSK antibodies in vitro

JOURNAL ARTICLE published March 2017 in Neuromuscular Disorders

Authors: S. Huda | M. Cao | A. De Rosa | M. Woodhall | J. Cossins | M. Maestri | R. Ricciardi | D. Beeson | A. Vincent

P.15.4 ZASP–sZM mutations in myofibrillar myopathy cause skeletal muscle Z-disc disruption by disassembling α-actinin cross-linked skeletal actin filaments

JOURNAL ARTICLE published October 2013 in Neuromuscular Disorders

Authors: X. Lin | J. Ruiz | I. Bajraktari | S. Banerjee | K. Gribble | R. Griggs | K. Fischbeck | A. Mankodi

G.P.5 05 Skeletal muscle involvement in neuraminidase deficient mice

JOURNAL ARTICLE published October 2006 in Neuromuscular Disorders

Authors: E. Zanoteli | G. Yogalingam | H. Hu | E. Bonten | A. d’Azzo

P.5.16 Predominant right ventricular involvement in patients with laminopathies

JOURNAL ARTICLE published October 2013 in Neuromuscular Disorders

Authors: R. Ben Yaou | K. Wahbi | C. Meune | V. Fressart | L. Feldman | A. Behin | I. Pénisson-Besnier | J.A. Urtizberea | B. Eymard | P. Richard | G. Bonne | D. Duboc

N.P.4 02 Motor function measure that permits the evaluation of ambulatory spinal muscular atrophy patients

JOURNAL ARTICLE published October 2006 in Neuromuscular Disorders

Authors: J.M. Rascoll | A.M. Glanzman | S. Riley | J. Quigley | J. Flickinger | P. Ryan | M. McDermott

Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation

JOURNAL ARTICLE published October 2016 in Neuromuscular Disorders

Authors: D. Ardicli | R. Gocmen | S. Cirak | B. Talim | G. Haliloglu | H. Topaloglu

P02 Multiexon skipping in Duchenne muscular dystrophy

JOURNAL ARTICLE published March 2010 in Neuromuscular Disorders

Authors: L. Popplewell | G. Dickson

HEREDITARY NEUROPATHIES & ALS

JOURNAL ARTICLE published October 2020 in Neuromuscular Disorders

Authors: L. Gonzalez-Quereda | P. Gallano | I. Pagola | M. Rodriguez | S. Bernal | L. Torné | I. Jericó

G.P.9.09 A new type of autosomal dominant adult onset spinal motor neuronopathy

JOURNAL ARTICLE published September 2009 in Neuromuscular Disorders

Authors: M. Jokela | B. Udd | S. Penttilä | A.M. Saukkonen | J. Toivanen | T. Suominen

Diagnostic challenges in paediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy

JOURNAL ARTICLE published April 2018 in Neuromuscular Disorders

Authors: M. Pal-Magdics | R. Phadke | C. Pilkington | S.L. Maltby | M. Wood | P. Munot | A. Manzur | A. Sarkozy

Functional assessment of nebulin missense variants

JOURNAL ARTICLE published October 2015 in Neuromuscular Disorders

Authors: J. Laitila | M. Marttila | V. Lehtokari | C. Wallgren-Pettersson | K. Pelin

Muskelerkrankungen, 2nd edn.

JOURNAL ARTICLE published January 1992 in Neuromuscular Disorders

Authors: Denis Harriman

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES

JOURNAL ARTICLE published October 2021 in Neuromuscular Disorders

Authors: L. Perry | R. Phadke | R. Mein | Y. Clinch | S. Robb | P. Munot | L. Feng | C. Sewry | A. Manzur | R. Quinlivan | M. Scoto | G. Baranello | F. Muntoni | A. Sarkozy

G.P.80

JOURNAL ARTICLE published October 2014 in Neuromuscular Disorders

Authors: T. Gidaro | E. Bianchi | O. Hougrand | B. Florkrin | J.P. Misson | F. Barache | L. Servais

Altered actin affinity – a possible disease-causing mechanism in NEB -related nemaline myopathy

JOURNAL ARTICLE published October 2017 in Neuromuscular Disorders

Authors: J. Lehtonen | J. Laitila | V. Lehtokari | M. Grönholm | C. Wallgren-Pettersson | K. Pelin

G.P.1.11 Heart and respiratory function in steroid treated DMD

JOURNAL ARTICLE published October 2007 in Neuromuscular Disorders

Authors: A. Berardinelli | K. Gorni | A. Pini | C. Motta | E. Fazzi

P2.60 Distal myopathy caused by a homozygous mutation in the titin gene

JOURNAL ARTICLE published October 2011 in Neuromuscular Disorders

Authors: L. Negrão | S. Penttila | A. Matos | O. Rebelo | A. Geraldo | A. Vihola | P. Hackman | B. Udd