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BMC Neurology

Neuromuscular disorders and peripheral neurology

Section edited by Jens Schmidt

This section encompasses all aspects of neuromuscular disorders. Topics include myasthenia gravis, myopathies, neuropathies and all other inflammatory, metabolic and genetic disorders affecting skeletal muscle, peripheral nerve or neuromuscular transmission.

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  1. Content type: Study protocol

    Patisiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of hereditary ATTR (hATTR) amyloidosis, a progressive disease associated with significant disability, morbid...

    Authors: David Adams, Ole B. Suhr, Peter J. Dyck, William J. Litchy, Raina G. Leahy, Jihong Chen, Jared Gollob and Teresa Coelho

    Citation: BMC Neurology 2017 17:181

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  2. Content type: Research article

    The disease course and early signs specific to ATTR Ala97Ser, the most common endemic mutation in Taiwan, have not been well described. Since new medications can slow down the rate of disease progression, the ...

    Authors: Hui-Ching Hsu, Ming-Feng Liao, Jung-Lung Hsu, Ai-Lun Lo, Hung-Chou Kuo, Rong-Kuo Lyu, Victor Chien-Chia Wu, Chih-Wei Wang and Long-Sun Ro

    Citation: BMC Neurology 2017 17:178

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  3. Content type: Research article

    Adult neurogenesis persists through life at least in classic neurogenic niches. Neurogenesis has been previously described as reduced in neurodegenerative diseases. There is not much knowledge about is adult n...

    Authors: Lucía Galán, Ulises Gómez-Pinedo, Antonio Guerrero, Jose Manuel García-Verdugo and Jorge Matías-Guiu

    Citation: BMC Neurology 2017 17:173

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  4. Content type: Research article

    Conditioned pain modulation (CPM) evaluates the pain modulating effect of a noxious conditioning stimulus (CS) on another noxious test stimulus (TS), mostly based solely on subjective pain ratings. We used pai...

    Authors: Oliver Höffken, Özüm S. Özgül, Elena K. Enax-Krumova, Martin Tegenthoff and Christoph Maier

    Citation: BMC Neurology 2017 17:167

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  5. Content type: Research article

    Neuropathy is one of the major complications of type 2 diabetes mellitus. Our first aim was to determine the clinical characteristics of a population of diabetic patients with different types of neuropathy. Ou...

    Authors: Angélica Carbajal-Ramírez, Rebeca García-Macedo, Carlos Manlio Díaz-García, Carmen Sanchez-Soto, Araceli Méndez Padrón, Jorge Escobedo de la Peña, Miguel Cruz and Marcia Hiriart

    Citation: BMC Neurology 2017 17:161

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  6. Content type: Case report

    Chronic immune sensory polyradiculopathy (CISP) identifies a progressive acquired peripheral dysimmune neuropathy recognized as a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) variant. We de...

    Authors: Angelo Maurizio Clerici, Eduardo Nobile-Orazio, Marco Mauri, Federico Sergio Squellati and Giorgio Giovanni Bono

    Citation: BMC Neurology 2017 17:127

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  7. Content type: Research article

    There are marked ethnic differences in the susceptibility to the long-term diabetic vascular complications including sensory neuropathy. The vascular endothelial growth factor (VEGF) +405 (C/G) and −460 (T/C) ...

    Authors: Karima Zitouni, Lorna Tinworth and Kenneth Anthony Earle

    Citation: BMC Neurology 2017 17:125

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  8. Content type: Research article

    There are considerable phenotypic and neuroimmune overlaps between myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and multiple sclerosis (MS). While the precise aetiologies of both MS and ME/CFS a...

    Authors: Vageesh Jain, Amit Arunkumar, Caroline Kingdon, Eliana Lacerda and Luis Nacul

    Citation: BMC Neurology 2017 17:117

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  9. Content type: Research article

    Seronegative ocular myasthenia gravis (OMG) is diagnosed by ocular symptoms with supporting SFEMG, typically of frontalis or extensor digitorum muscles. We aimed to determine the sensitivity and specificity of...

    Authors: Goran Rakocevic, Mark Moster and Mary Kay Floeter

    Citation: BMC Neurology 2017 17:108

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  10. Content type: Case report

    Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare a...

    Authors: Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala and Kari Majamaa

    Citation: BMC Neurology 2017 17:96

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  11. Content type: Case report

    Chronic graft-versus-host disease (GVHD) appears several months following allogenic hematopoietic stem cell transplantation (HSCT) and is clinically analogous to autoimmune disorder. Polymyositis is a common n...

    Authors: Masahiko Fukatsu, Takenobu Murakami, Hiroshi Ohkawara, Shunichi Saito, Kazuhiko Ikeda, Suguru Kadowaki, Itaru Sasaki, Mari Segawa, Tomoko Soeda, Akihiko Hoshi, Hiroshi Takahashi, Akiko Shichishima-Nakamura, Kazuei Ogawa, Yoshihiro Sugiura, Hitoshi Ohto, Yasuchika Takeishi…

    Citation: BMC Neurology 2017 17:93

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  12. Content type: Research article

    The aim of this study was to examine the stability and relative validity (RV) of the Neuromuscular Disease Impact Profile (NMDIP) using criterion-related groups. In a previous study the NMDIP-scales showed goo...

    Authors: Isaäc Bos, Jan B.M. Kuks, Josué Almansa, Hubertus P.H. Kremer and Klaske Wynia

    Citation: BMC Neurology 2017 17:87

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  13. Content type: Case report

    Undifferentiated connective tissue disease (UCTD) is widely considered to be a distinct clinical entity, and now divided into two subgroups: stable UCTD and early UCTD. The most frequent onset symptoms of UCTD...

    Authors: Ying Du, Chuan Li, Dai-di Zhao, Jia-rui Lu, Wei Zhang and Zhu-yi Li

    Citation: BMC Neurology 2017 17:85

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  14. Content type: Research article

    Neuromuscular electrical stimulation (NMES) is commonly used to activate skeletal muscles and reverse muscle atrophy in clinical populations. Clinical recommendations for NMES suggest the use of short pulse wi...

    Authors: Vanesa Bochkezanian, Robert U. Newton, Gabriel S. Trajano, Amilton Vieira, Timothy S. Pulverenti and Anthony J. Blazevich

    Citation: BMC Neurology 2017 17:82

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  15. Content type: Research article

    Clinical predictors for myasthenia gravis relapse and ocular myasthenia gravis secondary generalization during the first two years after disease onset remain incompletely identified. This study attempts to inv...

    Authors: Lili Wang, Yun Zhang and Maolin He

    Citation: BMC Neurology 2017 17:77

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  16. Content type: Case report

    Conjugal amyotrophic lateral sclerosis is rare, with significant effects on psychological and care needs. We report a case of conjugal amyotrophic lateral sclerosis disease from central Scotland. This case is ...

    Authors: P. M. Fernandes, M. R. Macleod, A. Bateman, S. Abrahams and S. Pal

    Citation: BMC Neurology 2017 17:64

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  17. Content type: Research article

    Reports on the clinical meaningfulness of outcome measures in spinal muscular atrophy (SMA) are rare. In this two-part study, our aim was to explore patients’ and caregivers’ views on the clinical relevance of...

    Authors: Maria C. Pera, Giorgia Coratti, Nicola Forcina, Elena S. Mazzone, Mariacristina Scoto, Jacqueline Montes, Amy Pasternak, Anna Mayhew, Sonia Messina, Maria Sframeli, Marion Main, Robert Muni Lofra, Tina Duong, Danielle Ramsey, Sally Dunaway, Rachel Salazar…

    Citation: BMC Neurology 2017 17:39

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  18. Content type: Research article

    Non–neuronal acetylcholine (ACh) restricts autoimmune responses and attenuates inflammation by cholinergic anti-inflammation pathway. To date, the implication of ACh in myasthenia gravis (MG) remained unexplor...

    Authors: Bin Han, Chao Zhang, Shoufeng Liu, Yiping Xia, Hao Sun, Zhongying Gong, Alain R. Simard, Qiang Liu and Junwei Hao

    Citation: BMC Neurology 2017 17:28

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  19. Content type: Research article

    Accidents or neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) can lead to progressing, extensive, and complete paralysis leaving patients aware but unable to communicate (locked-in state). B...

    Authors: Helena Erlbeck, Ursula Mochty, Andrea Kübler and Ruben G. L. Real

    Citation: BMC Neurology 2017 17:3

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