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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

    Cerebral palsy (CP) results from a static brain lesion during pregnancy or early life and remains the most common cause of physical disability in children (1 in 500). While the brain lesion is static, the phys...

    Authors: Roslyn N Boyd, Rachel Jordan, Laura Pareezer, Anne Moodie, Christine Finn, Belinda Luther, Evyn Arnfield, Aaron Pym, Alex Craven, Paula Beall, Kelly Weir, Megan Kentish, Meredith Wynter, Robert Ware, Michael Fahey, Barry Rawicki…

    Citation: BMC Neurology 2013 13:57

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  2. Content type: Research article

    Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (P...

    Authors: Nurcan Üçeyler, Ann-Kathrin Kahn, Daniela Kramer, Daniel Zeller, Jordi Casanova-Molla, Christoph Wanner, Frank Weidemann, Zaza Katsarava and Claudia Sommer

    Citation: BMC Neurology 2013 13:47

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  3. Content type: Research article

    Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene (TTN) mutation. We independently studied HMERF-like diseases with th...

    Authors: Camilo Toro, Montse Olivé, Marinos C Dalakas, Kumaraswami Sivakumar, Juan M Bilbao, Felix Tyndel, Noemí Vidal, Eva Farrero, Nyamkhishig Sambuughin and Lev G Goldfarb

    Citation: BMC Neurology 2013 13:29

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  4. Content type: Research article

    Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive. In...

    Authors: Charlotte Fischer, Konstanze Kleinschnitz, Arne Wrede, Ingrid Muth, Niels Kruse, Ichizo Nishino and Jens Schmidt

    Citation: BMC Neurology 2013 13:24

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  5. Content type: Research article

    This paper provides a strategy to obtain a reliable estimate of the incidence rate for Amyotrophic lateral sclerosis based on data from the National Registry of Rare Diseases (NRRD). In fact, unobserved cases ...

    Authors: Irene Rocchetti, Domenica Taruscio and Daniela Pierannunzio

    Citation: BMC Neurology 2012 12:160

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  6. Content type: Research article

    Posterior reversible encephalopathy syndrome (PRES) has been increasingly identified in patients with systemic lupus erythematosus (SLE) owing to the advance in neuroimaging techniques. Prompt diagnosis is piv...

    Authors: Bin Liu, Xuan Zhang, Feng-chun Zhang, Yuan Yao, Ri-zhi Zhou, Miao-Miao Xin and Li-Qin Wang

    Citation: BMC Neurology 2012 12:152

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  7. Content type: Case report

    The autophagic vacuolar myopathies (AVM) are a group of inherited myopathies defined by the presence of autophagic vacuoles in pathological muscle specimens. AVM can be categorized into three groups: acid malt...

    Authors: Kota Bokuda, Keizo Sugaya, Shunichiro Tamura, Kazuhito Miyamoto, Shiro Matsubara and Takashi Komori

    Citation: BMC Neurology 2012 12:140

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  8. Content type: Study protocol

    Chronic fatigue and inactivity are prevalent problems among individuals with multiple sclerosis (MS) and may independently or interactively have detrimental effects on quality of life and ability to participat...

    Authors: Matthew Plow, Marcia Finlayson, Robert W Motl and Francois Bethoux

    Citation: BMC Neurology 2012 12:122

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  9. Content type: Research article

    The aim of this study was to perform a longitudinal assessment using Quantitative Muscle Testing (QMT) in a cohort of ambulant boys affected by Duchenne muscular dystrophy (DMD) and to correlate the results of...

    Authors: Alberto Lerario, Serena Bonfiglio, MariaPia Sormani, Andrea Tettamanti, Sarah Marktel, Sara Napolitano, Stefano Previtali, Marina Scarlato, MariaGrazia Natali-Sora, Eugenio Mercuri, Nereo Bresolin, Tiziana Mongini, Giancarlo Comi, Roberto Gatti, Fabio Ciceri, Giulio Cossu…

    Citation: BMC Neurology 2012 12:91

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  10. Content type: Research article

    Little is known about the clinical features and true survival risk factors in Chinese Han population. We conducted the current study to investigate the clinical features, long-term outcome and true potential i...

    Authors: Xiao Ming Shu, Xin Lu, Yao Xie and Guo Chun Wang

    Citation: BMC Neurology 2011 11:143

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  11. Content type: Research article

    Neuropathic pain must be correctly diagnosed for optimal treatment. The questionnaire named Neuropathic Pain Symptom Inventory (NPSI) was developed in its original French version to evaluate the different symp...

    Authors: Claudia Sommer, Helmut Richter, Jan P Rogausch, Jule Frettlöh, Margitta Lungenhausen and Christoph Maier

    Citation: BMC Neurology 2011 11:104

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  12. Content type: Research article

    Long-term immunosuppression is often required in myasthenia gravis (MG). There are no published trials using methotrexate (MTX) in MG. The steroid-sparing efficacy of azathioprine (AZA) has been demonstrated a...

    Authors: Jeannine M Heckmann, Amanullah Rawoot, Kathleen Bateman, Rudi Renison and Motasim Badri

    Citation: BMC Neurology 2011 11:97

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  13. Content type: Research article

    Myotonic dystrophy type 1 (MD1) is one of the most prevalent neuromuscular diseases, yet very little is known about how MD1 affects the lives of couples and how they themselves manage individually and together...

    Authors: Edith HC Cup, Astrid Kinébanian, Ton Satink, Allan J Pieterse, Henk T Hendricks, Rob AB Oostendorp, Gert Jan van der Wilt and Baziel GM van Engelen

    Citation: BMC Neurology 2011 11:86

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  14. Content type: Research article

    Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. Neuromuscular abnormality and autonomic system (ANS) dysfuction in CTX are rarely examined in large-scale studies in the literature. We stu...

    Authors: Shu-Fang Chen, Nai-Wen Tsai, Chung-Chih Chang, Cheng-Hsien Lu, Chi-Ren Huang, Yao-Chung Chuang and Wen-Neng Chang

    Citation: BMC Neurology 2011 11:63

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  15. Content type: Research article

    Patients with diabetic neuropathy (DPN) and fibromyalgia differ substantially in pathogenetic factors and the spatial distribution of the perceived pain. We questioned whether, despite these obvious difference...

    Authors: Jana Koroschetz, Stefanie E Rehm, Ulrich Gockel, Mathias Brosz, Rainer Freynhagen, Thomas R Tölle and Ralf Baron

    Citation: BMC Neurology 2011 11:55

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  16. Content type: Research article

    Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases de...

    Authors: Alexander G Munts, Winfred Mugge, Thomas S Meurs, Alfred C Schouten, Johan Marinus, G Lorimer Moseley, Frans CT van der Helm and Jacobus J van Hilten

    Citation: BMC Neurology 2011 11:53

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