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Journal Article

Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy

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Emilien Delmont, Constance Manso, Luis Querol, Andrea Cortese, Angela Berardinelli ...
Published: 28 May 2017
Journal Article

Rewiring the primary somatosensory cortex in carpal tunnel syndrome with acupuncture

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Yumi Maeda, Hyungjun Kim, Norman Kettner, Jieun Kim, Stephen Cina ...
Published: 02 March 2017
Journal Article
EDITOR'S CHOICE

COL6A5 variants in familial neuropathic chronic itch

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Filippo Martinelli-Boneschi, Marina Colombi, Marco Castori, Grazia Devigili, Roberto Eleopra ...
Published: 10 January 2017
Journal Article

Axonal neuropathy with neuromyotonia: there is a HINT

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Kristien Peeters, Teodora Chamova, Ivailo Tournev, Albena Jordanova
Published: 21 December 2016
Journal Article

Auto-antibodies to contactin-associated protein 1 (Caspr) in two patients with painful inflammatory neuropathy

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Kathrin Doppler, Luise Appeltshauser, Carmen Villmann, Corinna Martin, Elior Peles ...
Published: 29 July 2016
Journal Article
EDITOR'S CHOICE

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

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Emily O’Connor, Ana Töpf, Juliane S. Müller, Daniel Cox, Teresinha Evangelista ...
Published: 03 June 2016
Journal Article

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

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John Vissing, Rita Barresi, Nanna Witting, Marijke Van Ghelue, Lise Gammelgaard ...
Published: 03 June 2016
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EDITOR'S CHOICE

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

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Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou ...
Published: 23 May 2016
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Microvascular alterations and the role of complement in dermatomyositis

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Rajat Lahoria, Duygu Selcen, Andrew G. Engel
Published: 16 May 2016
Journal Article

Emerging therapies for mitochondrial disorders

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Helen Nightingale, Gerald Pfeffer, David Bargiela, Rita Horvath, Patrick F. Chinnery
Published: 03 May 2016
Journal Article
EDITOR'S CHOICE

High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody

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Yves Allenbach, Jeremy Keraen, Anne-marie Bouvier, Valérie Jooste, Nicolas Champtiaux ...
Published: 17 April 2016
Journal Article

Mice with an Na V 1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis

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Fenfen Wu, Wentao Mi, Yu Fu, Arie Struyk, Stephen C. Cannon
Published: 05 April 2016
Journal Article

Anti-ganglioside antibodies are removed from circulation in mice by neuronal endocytosis

Madeleine E. Cunningham, Rhona McGonigal, Gavin R. Meehan, Jennifer A. Barrie, Denggao Yao ...
Published: 26 March 2016
Journal Article

Contactin-1 IgG4 antibodies cause paranode dismantling and conduction defects

Constance Manso, Luis Querol, Mourad Mekaouche, Isabel Illa, Jérôme J. Devaux
Published: 26 March 2016
Journal Article

De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

William W. Motley, Paulius Palaima, Sabrina W. Yum, Michael A. Gonzalez, Feifei Tao ...
Published: 23 March 2016
Journal Article

Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis

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Pauline Vercruysse, Jérôme Sinniger, Hajer El Oussini, Jelena Scekic-Zahirovic, Stéphane Dieterlé ...
Published: 16 March 2016
Journal Article

Association of inclusion body myositis with T cell large granular lymphocytic leukaemia

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Steven A. Greenberg, Jack L. Pinkus, Anthony A. Amato, Thomas Kristensen, David M. Dorfman
Published: 26 February 2016
Journal Article

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

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Carlo Dionisi-Vici, Daria Diodato, Giuliano Torre, Stefano Picca, Rosanna Pariante ...
Published: 25 February 2016
Journal Article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

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Irina T. Zaharieva, Michael G. Thor, Emily C. Oates, Clara van Karnebeek, Glenda Hendson ...
Published: 22 December 2015
Journal Article

Axial myopathy: an overlooked feature of muscle diseases

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Nanna Witting, Linda K. Andersen, John Vissing
Published: 14 December 2015