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252nd ENMC international workshop: Developing best practice guidelines for management of mouthpiece ventilation in neuromuscular disorders. March 6th to 8th 2020, Amsterdam, the Netherlands

JOURNAL ARTICLE published September 2020 in Neuromuscular Disorders

Authors: Michelle Chatwin | Miguel Gonçalves | Jesus Gonzalez-Bermejo | Michel Toussaint | Michel Toussaint | Michelle Chatwin | Jésus Gonzalez-Bermejo | Miguel Gonçalves | Joshua O. Benditt | Doug McKim | Brit Hov | Valeria Sansone | Hélène Prigent | Annalisa Carlucci | Peter Wijkstra | Tiina Andersen | Barbara Garabelli | Joan Escarrabill | Tiago Pinto | Nicolas Audag | Laura Verweij-van den Oudenrijn | Adam Onga | Wendy Hughes | Christian Devaux | Johann Chaulet | Jesus Sancho

https://doi.org/10.1016/j.nmd.2020.07.008 Actions

Reduction of acethylcolinesterase activity in the brain of mdx mice

JOURNAL ARTICLE published May 2011 in Neuromuscular Disorders

Authors: Clarissa M. Comim | Thais Moraz | Igor Abreu | Daiane B. Fraga | Fernando V. Ghedim | Natália Mildner | Lisiane Tuon | Mariz Vainzof | Alexandra I. Zugno | João Quevedo

https://doi.org/10.1016/j.nmd.2011.02.017 Actions

Bone health in boys with Duchenne Muscular Dystrophy on long-term daily deflazacort therapy

JOURNAL ARTICLE published December 2012 in Neuromuscular Disorders

Authors: A.L. Mayo | B.C. Craven | L.C. McAdam | W.D. Biggar

https://doi.org/10.1016/j.nmd.2012.06.354 Actions

Abnormalities in brain biochemistry associated with lack of dystrophin: studies of the mdx mouse

JOURNAL ARTICLE published February 2002 in Neuromuscular Disorders

Authors: Caroline Rae | Julian L Griffin | Duncan H Blair | John H Bothwell | William A Bubb | Annie Maitland | Stewart Head

https://doi.org/10.1016/s0960-8966(01)00253-x Actions

Meeting report: The 2023 FSHD International Research Congress

JOURNAL ARTICLE published February 2024 in Neuromuscular Disorders

Authors: Jamshid Arjomand | Davide Gabellini | Nicol Voermans | Alexandra Belayew | Darko Bosnakovski | Katy Eichinger | Mauro Monforte | Piraye Oflazer | Alberto Luis Rosa

https://doi.org/10.1016/j.nmd.2023.10.018 Actions

Ascorbic acid inhibits PMP22 expression by reducing cAMP levels

JOURNAL ARTICLE published March 2007 in Neuromuscular Disorders

Authors: Ferdinand Kaya | Sophie Belin | Patrice Bourgeois | Joelle Micaleff | Olivier Blin | Michel Fontés

https://doi.org/10.1016/j.nmd.2006.12.008 Actions

Psychosocial adjustment in adults with Duchenne muscular dystrophy: A pilot study on a shortened parent-report questionnaire

JOURNAL ARTICLE published February 2022 in Neuromuscular Disorders

Authors: Pien M.M. Weerkamp | Philippe Collin | Rosa J. Maas | R. Jeroen Vermeulen | Sylvia Klinkenberg | Jos G.M. Hendriksen

https://doi.org/10.1016/j.nmd.2021.10.008 Actions

Treatment of myasthenia gravis with dropped head: A report of 2 cases and review of the literature

JOURNAL ARTICLE published May 2015 in Neuromuscular Disorders

Authors: Michihiro Tamai | Takao Hashimoto | Takashi Isobe | Hiromasa Sato | Tadashi Doden | Takeshi Nakano

https://doi.org/10.1016/j.nmd.2015.01.014 Actions

Compound heterozygous mutations of the TNXB gene cause primary myopathy

JOURNAL ARTICLE published August 2013 in Neuromuscular Disorders

Research funded by Flemish Government (BOF08/01M01108)

Authors: Isabelle Pénisson-Besnier | Valérie Allamand | Philippe Beurrier | Ludovic Martin | Joost Schalkwijk | Ivonne van Vlijmen-Willems | Corine Gartioux | Fransiska Malfait | Delfien Syx | Laurent Macchi | Pascale Marcorelles | Brigitte Arbeille | Anne Croué | Anne De Paepe | Frédéric Dubas

https://doi.org/10.1016/j.nmd.2013.04.009 Actions

Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies

JOURNAL ARTICLE published March 2000 in Neuromuscular Disorders

Authors: Odile Dubourg | Philippe Mouton | Alexis Brice | Eric LeGuern | Pierre Bouche

https://doi.org/10.1016/s0960-8966(99)00103-0 Actions

CONGENITAL MYOPATHIES (CNM)

JOURNAL ARTICLE published October 2018 in Neuromuscular Disorders

Authors: P. Shieh | W. Müller-Felber | B. Smith | C. Bönnemann | J. Dowling | N. Kuntz | F. Muntoni | L. Servais | D. Bilder | T. Duong | R. Graham | M. Jain | M. Lawlor | V. MacBean | M. Noursalehi | T. Pitts | G. Rafferty | S. Rico | S. Prasad

https://doi.org/10.1016/j.nmd.2018.06.164 Actions

Antisense strategies targeting DUX4 and DUX4c as therapeutic approaches for facioscapulohumeral muscular dystrophy (FSHD)

JOURNAL ARTICLE published October 2015 in Neuromuscular Disorders

Authors: C. Vanderplanck | A. Tassin | E. Ansseau | C. Lancelot | A. Derenne | S. Conotte | V. Dudome | B. Leroy | S. Wilton | D. Laoudj-Chenivesse | R. Wattiez | A. Legrand | A. Belayew | F. Coppée

https://doi.org/10.1016/j.nmd.2015.06.447 Actions

Anti-HMGCR antibody positive myopathy shows bcl-2-positive lymphocyte follicles

JOURNAL ARTICLE published October 2017 in Neuromuscular Disorders

Authors: T. Kurashige | N. Sumi | T. Kanbara | M. Ohta | T. Sugiura | H. Maruyama | T. Torii

https://doi.org/10.1016/j.nmd.2017.06.236 Actions

Author Index

JOURNAL ARTICLE published October 2006 in Neuromuscular Disorders

https://doi.org/10.1016/j.nmd.2006.05.014 Actions

A colour atlas of muscle disorders in childhood

JOURNAL ARTICLE published January 1991 in Neuromuscular Disorders

https://doi.org/10.1016/0960-8966(91)90045-t Actions

Molecular diagnosis of genetic muscle disorders in New Zealand

JOURNAL ARTICLE published October 2016 in Neuromuscular Disorders

Authors: M. Rodrigues | G. Poke | R. Roxburgh | K. Flintoff | D. Love | E. Parkes | S. Bawden | S. Oates | A. Theadom

https://doi.org/10.1016/j.nmd.2016.06.439 Actions

Instructions to authors

JOURNAL ARTICLE published August 2002 in Neuromuscular Disorders

https://doi.org/10.1016/s0960-8966(02)00124-4 Actions

CONGENITAL MUSCULAR DYSTROPHIES

JOURNAL ARTICLE published October 2018 in Neuromuscular Disorders

Authors: L. Le Goff | M. Fink | G. Norato | P. Rippert | K. Meilleur | A.R. Foley | M. Jain | M. Waite | S. Donkervoort | C. Bönnemann | C. Vuillerot

https://doi.org/10.1016/j.nmd.2018.06.374 Actions

KHLH40 mutations causing severe neonatal nemaline myopathy

JOURNAL ARTICLE published October 2017 in Neuromuscular Disorders

Authors: T. Willis | R. Kulshrestha | C. Sewry

https://doi.org/10.1016/j.nmd.2017.06.322 Actions

Neuroglial miscommunication in the cerebellum of a mouse model of myotonic dystrophy

JOURNAL ARTICLE published October 2015 in Neuromuscular Disorders

Authors: L. Servais | G. Sicot | D. Dinca | G. Prigogine | A. Leroy | F. Medja | C. Chhuon | A. Huguet | A. Nicole | N. Gueriba | C. Guerrera | G. Cheron | G. Gourdon | M. Gomes-Pereira

https://doi.org/10.1016/j.nmd.2015.06.105 Actions
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