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Neuromuscular Disorders
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Volume 29, Issue 12
Pages 913-1018 (December 2019)
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1. Editorial Board
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2. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants
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Hannah F Jones, Samantha J Bryen, Leigh B Waddell, Adam Bournazos, ... Sandra T Cooper
3. Evaluation of gait in Duchenne Muscular Dystrophy: Relation of 3D gait analysis to clinical assessment
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Alberto Romano, Martina Favetta, Tommaso Schirinzi, Susanna Summa, ... Gessica Vasco
4. Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy
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Madoka Mori-Yoshimura, Yukio Mizuno, Sumiko Yoshida, Naoko Ishihara, ... Yuji Takahashi
5. A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy
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Sonia Messina, Anna Lia Frongia, Laura Antonaci, Maria Carmela Pera, ... Eugenio Mercuri
6. Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency
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Carola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, Klaus Böck, ... Anders Oldfors
7. GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics
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Gaurav Gomez, Meeka Khanna, Anupam Gupta, Atchayaram Nalini, ... Seena Vengalil
8. Late-onset Pompe disease associated with polyneuropathy
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M. Lamartine S.Monteiro, G. Remiche
9. Early onset facioscapulohumeral muscular dystrophy – Long-term follow-up of a patient with total facial diplegia
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Sabine Rudnik-Schöneborn, Martina Huemer, Joachim Weis, Elizabeta Sauer, Gerhard Meng
10. Book review
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Dr. Deepa Krishnakumar
11. Book review
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Adrian Wills
12. Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype
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Gaia Scarpini, Carlotta Spagnoli, Grazia Gabriella Salerno, Susanna Rizzi, ... Carlo Fusco
13. The 2020 version of the gene table of neuromuscular disorders (nuclear genome)
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Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun