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Neuromuscular Disorders
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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1. Editorial Board
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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
2. Malignancy and myositis, from molecular mimicry to tumor infiltrating lymphocytes
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Tác giả
Albert Selva-O'Callaghan, Javier Ros, Albert Gil-Vila, Gemma Vila-Pijoan, ... Iago Pinal-Fernandez
2. Membrane recruitment of nNOSµ in microdystrophin gene transfer to enhance durability
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Tác giả
Jessica F. Boehler, Valeria Ricotti, J. Patrick Gonzalez, Meghan Soustek-Kramer, ... Carl A. Morris
2. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
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Tác giả
Filomena Caria, Matilde Cescon, Francesca Gualandi, Anna Pichiecchio, ... Massimiliano Filosto
2. Quality of life in long term ventilated adult patients with Duchenne muscular dystrophy
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Tác giả
Grazia Crescimanno, Francesca Greco, Rosaria D'Alia, Luigi Messina, Oreste Marrone
2. Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy
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Tác giả
Corinna Preuße, Arpad von Moers, Heike Kölbel, Debora Pehl, ... Werner Stenzel
2. The World Wide Web (WWW): For better or for worse
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2. Newborn screening for SMA in Southern Belgium
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François Boemer, Jean-Hubert Caberg, Vinciane Dideberg, Domien Dardenne, ... Laurent Servais
2. Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study
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Tác giả
V. Ricotti, V. Selby, D. Ridout, J. Domingos, ... F. Muntoni
2. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, o
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Tác giả
Loren D.M. Pena, Richard J. Barohn, Barry J. Byrne, Claude Desnuelle, ... Ans T. van der Ploeg
2. The clinical management of neuromuscular disorders in intensive care
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Tác giả
Maxwell S. Damian, Eelco F.M. Wijdicks
2. Commentary from the Editor
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Victor Dubowitz
3. Evaluation of gait in Duchenne Muscular Dystrophy: Relation of 3D gait analysis to clinical assessment
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Tác giả
Alberto Romano, Martina Favetta, Tommaso Schirinzi, Susanna Summa, ... Gessica Vasco
3. MYO-MRI diagnostic protocols in genetic myopathies
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Tác giả
Jodi Warman Chardon, Jordi Díaz-Manera, Giorgio Tasca, Carsten G. Bönnemann, ... Robert Y Carlier
3. Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach
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Tác giả
Sara Bortolani, Guido Stura, Giancarlo Ventilii, Liliana Vercelli, ... Tiziana Mongini
3. Heterogeneity and shifts in distribution of muscle weakness in myasthenia gravis
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Tác giả
Robert H.P. de Meel, Martijn R. Tannemaat, Jan J.G.M. Verschuuren
3. Muscle biopsies in clinical trials for Duchenne muscular dystrophy – Patients’ and caregivers’ perspective
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Tác giả
Ingrid E.C. Verhaart, Alex Johnson, Sejal Thakrar, Elizabeth Vroom, ... Erik H. Niks
3. Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene
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Tác giả
J. Svahn, P. Laforêt, C. Vial, N. Streichenberger, ... T. Stojkovic
3. Critical Review Ahead of Publication
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Tác giả
Victor Dubowitz
3. Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement
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Tác giả
Lin Ge, Xiaona Fu, Wei Zhang, Dong Wang, ... Hui Xiong
3. Neuromuscular disorders in Israel: A model country for ethnic clusters
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Tác giả
Zohar Argov
3. Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy
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Tác giả
Cinthia Amiñoso, María Gordillo-Marañón, Jaime Hernández, Jesús Solera
3. Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene
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Kirsi J. Kiiski, Vilma-Lotta Lehtokari, Anna K. Vihola, Jenni M. Laitila, ... Bjarne Udd
3. Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: Clinical features and treatment outcomes in a Chinese cohort
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Ying Hou, Meirong Liu, Yue-Bei Luo, Yuan Sun, ... Chuanzhu Yan
4. Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy
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Tác giả
Madoka Mori-Yoshimura, Yukio Mizuno, Sumiko Yoshida, Naoko Ishihara, ... Yuji Takahashi
4. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
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Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, Wuh-Liang Hwu, ... Wildon Farwell
4. Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
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Enrico Bugiardini, Alaa M. Khan, Rahul Phadke, David S. Lynch, ... Michael G. Hanna
4. Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis
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Tác giả
Satoshi Kuru, Tomoka Uchiyama, Ayako Hattori, Takatoshi Sato, ... Takahiro Nakayama
4. Normative data and percentile curves for the three-minute walk test and timed function tests in healthy Caucasian boys from 2.5 up to 6 years old
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Jasmine Hoskens, Nathalie Goemans, Hilde Feys, Liesbeth De Waele, ... Katrijn Klingels
4. Longitudinal study of upper extremity reachable workspace in fascioscapulohumeral muscular dystrophy
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Tác giả
Maya N. Hatch, Kiin Kim, Gregorij Kurillo, Alina Nicorici, ... Jay J. Han
4. Spinal Muscular Atrophy Revisited
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Tác giả
Victor Dubowitz
4. Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia
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Tác giả
Elena Schlapakow, Viktoriya Peeva, Gábor Zsurka, Monika Jeub, ... Wolfram S. Kunz
4. Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy
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Tác giả
Hyung Jun Park, Ji-Man Hong, Jung Hwan Lee, Ha Young Shin, ... Young-Chul Choi
4. Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease
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Tác giả
José Guevara-Campos, Lucía González-Guevara, Omar Cauli
4. Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations
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Tác giả
Eva Michael, Carola Hedberg-Oldfors, Philip Wilmar, Kittichate Visuttijai, ... Niklas Darin
4. Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review
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Tác giả
Patricia Hafner, Rahul Phadke, Adnan Manzur, Ralph Smith, ... Matthew Pitt
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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Tác giả
Sonia Messina, Anna Lia Frongia, Laura Antonaci, Maria Carmela Pera, ... Eugenio Mercuri
5. Longitudinal natural history in young boys with Duchenne muscular dystrophy
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Tác giả
Giorgia Coratti, Claudia Brogna, Giulia Norcia, Valeria Ricotti, ... Eugenio Mercuri
5. High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study
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Tác giả
Joost Berends, Alide A. Tieleman, Corinne G.C. Horlings, Fran H.P. Smulders, ... Joost Raaphorst
5. X-linked Emery–Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
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Tác giả
Marion Brisset, Rabah Ben Yaou, Robert-Yves Carlier, Anaїs Chanut, ... Edoardo Malfatti
5. Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling
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Tác giả
G Toksoy, H Durmus, A Aghayev, G Bagirova, ... ZO Uyguner
5. European regulators’ views on a wearable-derived performance measurement of ambulation for Duchenne muscular dystrophy regulatory trials
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Tác giả
Marion Haberkamp, Jane Moseley, Dimitrios Athanasiou, Fernando de Andres-Trelles, ... Armando Magrelli
5. Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?
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Tác giả
Juliette Ropars, Christine Barnerias, Marie Hully, Delphine Chabalier, ... Isabelle Desguerre
5. Unraveling upper extremity performance in Duchenne muscular dystrophy: A biophysical model
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Tác giả
Mariska M.H.P. Janssen, Jaap Harlaar, Bart Koopman, Imelda J.M. de Groot
5. Unraveling upper extremity performance in Duchenne muscular dystrophy: A biophysical model
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Tác giả
Mariska M.H.P. Janssen, Jaap Harlaar, Bart Koopman, Imelda J.M. de Groot
5. Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review
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Tác giả
Wo-Tu Tian, Xing-Hua Luan, Hai-Yan Zhou, Chao Zhang, ... Li Cao
5. Respiratory dysfunction in myotonic dystrophy type 1: A systematic review
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Tác giả
A.M. Hawkins, C.L. Hawkins, K. Abdul Razak, T.K. Khoo, ... R.V. Jackson
5. Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study
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Tác giả
Agnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, Véronique Manel, ... Claude Cances
5. The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy
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Tác giả
Heidemarie Kletzl, Anne Marquet, Andreas Günther, Wakana Tang, ... Omar Khwaja
6. Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency
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Tác giả
Carola Hedberg-Oldfors, Willem De Ridder, Ognian Kalev, Klaus Böck, ... Anders Oldfors
6. Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature
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Tác giả
Elizabeth M. Gibbs, Florian Barthélémy, Emilie D. Douine, Natalie C. Hardiman, ... M. Carrie Miceli
6. ‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
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Tác giả
Adele D'Amico, Fabiana Fattori, Chiara Fiorillo, Maria Giovanna Paglietti, ... Enrico Bertini
6. Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases
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Tác giả
WooJoong Kim, Young Kyu Shim, Sun Ah Choi, Soo Yeon Kim, ... Jong-Hee Chae
6. Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling
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Tác giả
G Toksoy, H Durmus, A Aghayev, G Bagirova, ... ZO Uyguner
6. Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II
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Tác giả
A.L. Frongia, D. Natera-de Benito, C. Ortez, M. Alarcón, ... A. Nascimento
6. PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability
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Tác giả
Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, ... Ryuji Kaji
6. Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI
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Tác giả
Simona Saredi, Sara Gibertini, Leslie Matalonga, Laura Farina, ... Marina Mora
6. Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes
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Tác giả
Ceren Günbey, Kutay Sel, Çağrı Mesut Temuçin, Hayrettin Hakan Aykan, ... Banu Anlar
6. 6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)
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Tác giả
Gian Luca Vita, Claudia Stancanelli, Luca Gentile, Costanza Barcellona, ... Anna Mazzeo
6. Clinical spectrum of neuromuscular complications after immune checkpoint inhibition
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Tác giả
Araya Puwanant, Michael Isfort, David Lacomis, Saša A. Živković
6. Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
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Tác giả
E. van Ruitenbeek, J.A.E. Custers, C. Verhaak, M. Snoeck, ... N.C. Voermans
7. GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics
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Tác giả
Gaurav Gomez, Meeka Khanna, Anupam Gupta, Atchayaram Nalini, ... Seena Vengalil
7. A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film
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Tác giả
Daniel Cox, Matthew Henderson, Volker Straub, Rita Barresi
7. A novel case of inclusion body myositis and myasthenia gravis
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Tác giả
Sakis Lambrianides, Evgenios Kinnis, Michele Cleanthous, Revekka Papacharalambous, ... Theodoros Kyriakides
7. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy
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Tác giả
Debby M.E.I. Hellebrekers, Emma L. Blakely, Alexandra T.M. Hendrickx, Steven A. Hardy, ... Robert W. Taylor
7. A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission
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Tác giả
Stefan Nicolau, Teerin Liewluck, Xin-Ming Shen, Duygu Selcen, ... Margherita Milone
7. Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3
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Tác giả
Giovanni Baranello, Silvia Vai, Francesca Broggi, Riccardo Masson, ... Maria Luisa Bianchi
7. Surgical outcomes of cavovarus foot deformity in children with Charcot-Marie-Tooth disease
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Tác giả
Ting Lin, Paul Gibbons, Anita J. Mudge, Kayla M.D. Cornett, ... Joshua Burns
7. A review of the histopathological findings in myasthenia gravis: Clues to the pathogenesis of treatment-resistance in extraocular muscles
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Tác giả
Tarin A. Europa, Melissa Nel, Jeannine M. Heckmann
7. Evaluation and validation of sustained upgaze combined with the ice-pack test for ocular myasthenia gravis in Asians
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Tác giả
Hyun Joo Kee, Hee Kyung Yang, Jeong-Min Hwang, Kyung Seok Park
7. Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy
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Tác giả
Nitamarie Vorster, Kerry Evans, Nada Murphy, Maina Kava, ... Jenny Downs
7. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family
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Tác giả
Lois Dankwa, Jessica Richardson, William W. Motley, Mena Scavina, ... Steven S. Scherer
7. Myopathies featuring non-caseating granulomas: Sarcoidosis, inclusion body myositis and an unfolding overlap
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Tác giả
Reem M. Alhammad, Teerin Liewluck
8. Late-onset Pompe disease associated with polyneuropathy
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Tác giả
M. Lamartine S.Monteiro, G. Remiche
8. Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy – A systematic review and evidence synthesis
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Tác giả
K. de Valle, J.L. McGinley, I. Woodcock, M.M. Ryan, F. Dobson
8. Report of a novel ATP7A mutation causing distal motor neuropathy
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Tác giả
Francesca Gualandi, Elisabetta Sette, Fernanda Fortunato, Stefania Bigoni, ... Alessandra Ferlini
8. Women in the history of neuromuscular medicine
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Tác giả
Eleanor Thomas, Angela Aziz-Donnelly, Rocio Garcia-Santibanez
8. The nature of respiratory muscle weakness in patients with late-onset Pompe disease
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Tác giả
Jens Spiesshoefer, Carolin Henke, Hans Joachim Kabitz, Tobias Brix, ... Matthias Boentert
8. Efficient gene transfer into primary muscle cells to analyze nerve-independent postsynaptic organization in vitro
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Tác giả
Jessica Mella, Viviana Pérez, Diego Zelada, Nicolás Moreno, ... Juan Pablo Henríquez
8. Polyradiculoneuropathy in dourine-affected horses
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Tác giả
Bayasgalan Mungun-Ochir, Noriyuki Horiuchi, Adilbish Altanchimeg, Kenji Koyama, ... Yoshiyasu Kobayashi
8. ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
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Tác giả
Teerin Liewluck, Zhiyv Niu, Steven A. Moore, Mohammad Alsharabati, Margherita Milone
8. Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I
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Tác giả
Jens Spiesshoefer, Maya Runte, Anna Heidbreder, Michael Dreher, ... Matthias Boentert
8. Various effects of AAV9-mediated βARKct gene therapy on the heart in dystrophin-deficient (mdx) mice and δ-sarcoglycan-deficient (Sgcd-/-) mice
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Tác giả
Ralf Bauer, Helene Enns, Andreas Jungmann, Barbara Leuchs, ... Oliver J. Müller
8. Dropped head syndrome as a manifestation of Charcot–Marie–Tooth disease type 4C
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Tác giả
Camila Maria de Oliveira, Helena Fussiger, Pablo Brea Winckler, Jonas Alex Morales Saute
8. Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?
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Tác giả
Vivienne Travlos, Jenny Downs, Andrew Wilson, Dana Hince, Shane Patman
9. Early onset facioscapulohumeral muscular dystrophy – Long-term follow-up of a patient with total facial diplegia
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Tác giả
Sabine Rudnik-Schöneborn, Martina Huemer, Joachim Weis, Elizabeta Sauer, Gerhard Meng
9. Fatigue in primary genetic mitochondrial disease: No rest for the weary
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Tác giả
Sumit Parikh, Rachel Galioto, Brittany Lapin, Richard Haas, ... Amel Karaa
9. Changes detected in swallowing function in Friedreich ataxia over 12 months
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Tác giả
Megan Keage, Martin B. Delatycki, Jessamy Dyer, Louise A. Corben, Adam P. Vogel
9. 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands
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Tác giả
Jennifer Morgan, Gillian Butler-Browne, Francesco Muntoni, Ketan Patel, ... Peter Zammit
9. Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
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Tác giả
Shuang Cai, Mingshi Gao, Jianying Xi, Zhuo Liu, ... Jiahong Lu
9. Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble
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Tác giả
Jantima Tanboon, Oranee Sanmaneechai, Sirirat Charuvanij, Tumtip Sangruchi, ... Ichizo Nishino
9. Central drive and ventilatory failure in late-onset Pompe disease: At the gates of a new phenotype
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Tác giả
EL De Vito, SC Arce, SG Monteiro, GA Vaca Ruiz
9. Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
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Tác giả
Elena Ikenberg, Peter Reilich, Angela Abicht, Corina Heller, ... Maggie C. Walter
9. Are novel outcome measures for Charcot–Marie–Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study
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Tác giả
Costanza Pazzaglia, Luca Padua, Davide Pareyson, Angelo Schenone, ... Giuseppe Vita
9. Mitochondrial DNA depletion in sporadic inclusion body myositis
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Tác giả
Padmanabh S. Bhatt, Charalampos Tzoulis, Novin Balafkan, Hrvoje Miletic, ... Laurence A. Bindoff
9. Autologous hematopoietic stem cell transplantation in a patient with refractory seropositive myasthenia gravis: A case report
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Tác giả
Claudia Lucía Sossa Melo, Angela María Peña, Luis Antonio Salazar, Sara Inés Jiménez, ... Iván Mauricio Peña
9. Fractures and bone health monitoring in boys with Duchenne muscular dystrophy managed within the Scottish Muscle Network
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Tác giả
Shuko Joseph, Cunyi Wang, Marina Di Marco, Iain Horrocks, ... Sze Choong Wong
10. Book review
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Tác giả
Dr. Deepa Krishnakumar
10. Clinical features of Pompe disease with motor neuronopathy
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Tác giả
Li-Kai Tsai, Wuh-Liang Hwu, Ni-Chung Lee, Pei-Hsin Huang, Yin-Hsiu Chien
10. Development of an academic disease registry for spinal muscular atrophy
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Tác giả
Eugenio Mercuri, Richard Finkel, MariaCristina Scoto, Susan Hall, ... Adele D'Amico
10. 241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15–17th February, 2019 Hoofddorp, The Netherlands
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Tác giả
L. Greensmith, P.F. Pradat, G. Sorarù, M. Pennuto, European SBMA Consortium
10. 238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018
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Tác giả
John P. Bourke, Michela Guglieri, Denis Duboc, Annemieke Aartsma-Rus, ... Karim Wahbi
10. Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates
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Tác giả
Hai-yang Luo, Lu Zhao, Cheng-yuan Mao, Zhi-hua Yang, ... Yu-ming Xu
10. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement
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Tác giả
Didem Ardicli, Anna Sarkozy, Irina Zaharieva, Charu Deshpande, ... Francesco Muntoni
10. Wrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy
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Tác giả
Gabriel Cea, Juan Pablo Contreras, Shirley Aguilar, Julia Vera
10. First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features,
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Tác giả
M.C.J. Dekker, A.A. Tieleman, O.J. Igogo, H.A. van Duyvenvoorde, ... B.C. Hamel
10. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1
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Tác giả
Aurelio Hernandez-Lain, Diana Cantero, Ana Camacho-Salas, Oscar Toldos, ... Cristina Dominguez-Gonzalez
10. Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance
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Tác giả
Michelle L. Mauermann, Zhiyv Niu, Deborah L. Renaud, Jennifer L. Kemppainen, ... Christopher J. Klein
10. Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report
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Tác giả
Francesca Moro, Anna Rubegni, Francesca Pochiero, Serena Mero, ... Filippo M. Santorelli
11. Book review
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Tác giả
Adrian Wills
11. De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure
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Tác giả
Astrid Pechmann, Matthias Eckenweiler, David Schorling, Dimitra Stavropoulou, ... Janbernd Kirschner
11. Meeting on data sharing for Duchenne 21–22 March 2019 Amsterdam, the Netherlands
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Tác giả
Ingrid E.C. Verhaart, Peter A.C. ‘t Hoen, Marco Roos, Elizabeth Vroom, Workshop Participants
11. 243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019
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Tác giả
Joanna Poulton, Julie Steffann, Joerg Burgstaller, Robert McFarland, workshop participants
11. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015
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Tác giả
Sandra Donkervoort, James J. Dowling, Jocelyn Laporte, Daniel MacArthur, ... Edmar Zanoteli
11. Stopping oral steroid-sparing agents at initiation of rituximab in myasthenia gravis
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Tác giả
Ricardo H. Roda, Leana Doherty, Andrea M. Corse
11. Recessive MYH7-related myopathy in two families
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Tác giả
Sarah J. Beecroft, Martijn van de Locht, Josine M. de Winter, Coen A. Ottenheijm, ... Heinz Jungbluth
11. 237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018
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Tác giả
Oksana Pogoryelova, J. Andoni Urtizberea, Zohar Argov, Ichizo Nishino, ... Zohar Argov
11. Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy
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Tác giả
C.H. Cremers, M.J. Fischer, E.T. Kruitwagen-van Reenen, R.I. Wadman, ... C.D. Schröder
11. 236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1–3 June 2018
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Sze Choong Wong, Volker Straub, Leanne M. Ward, Ros Quinlivan, ... M. Zacharin
11. Muscle hypertrophy in amyloid myopathy
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Giorgio Tasca, Anna Modoni, Tommaso Nicoletti, Mauro Monforte, ... Enzo Ricci
11. Immunoglobulin (Ig)G-4 related myositis – A new entity?
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Vincent Casteleyn, Helena Radbruch, Torsten Diekhoff, Thomas Rose, ... Werner Stenzel
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
12. Predominant distal muscle involvement in spinal muscular atrophy
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C. Brogna, L. Cristiano, T. Verdolotti, L. Ficociello, ... E. Mercuri
12. 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19–20 June 2019
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June Kinoshita, Frédérique Magdinier, George W. Padberg
12. 2nd Workshop on upper-extremity assistive technology for people with Duchenne: Effectiveness and usability of arm supports Irvine, USA, 22nd–23rd January 2018
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Mariska M.H.P. Janssen, Joan Lobo-Prat, Arjen Bergsma, Elizabeth Vroom, ... Tariq Rahman
12. The prevalence of faecal incontinence in myotonic dystrophy type 1
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R.K.H. Petty, M.P. Eugenicos, M.J. Hamilton, M.E. Farrugia, ... C. Longman
12. Muscle fiber dysfunction contributes to weakness in inclusion body myositis
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Saskia Lassche, Anke Rietveld, Arend Heerschap, Hieronymus W van Hees, ... Coen AC Ottenheijm
12. “The impact of European Neuromuscular Centre (ENMC) workshops on the neuromuscular field; 25 years on …”
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Alexandra Breukel, Raffaella Willmann, George Padberg, Ellen Sterrenburg, Ingeborg Meijer
12. Neuromuscular disorders in Anatolia – A personal review
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Haluk Topaloğlu
12. A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect
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Marion Masingue, Julien Fauré, Guilhem Solé, Tanya Stojkovic, Sarah Léonard-Louis
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
13. Rhabdomyolysis and myoglobinuria following bisphosphonate infusion in patients with Duchenne muscular dystrophy
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Jennifer Lemon, Lucy Turner, Poonam Dharmaraj, Stefan Spinty
13. Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years
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Anne Schänzer, Jonas Görlach, Kerstin Claudi, Andreas Hahn
13. Fractures and bone health in Duchenne muscular dystrophy in Scotland
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Haluk Topaloğlu
13. Colonic distension treatment in Duchenne muscular dystrophy
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Giuseppe Fiorentino, Antonio M. Esquinas
13. Late onset distal myopathy: A new telethoninopathy
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Víctor Antonio Blanco-Palmero, Aurelio Hernández-Laín, David Uriarte-Pérez de Urabayen, Diana Cantero-Montenegro, ... Cristina Domínguez-González
14. 1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018
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Bjarne Udd, Werner Stenzel, Anders Oldfors, Montse Olivé, ... Teresinha Evangelista
14. Fractures and bone health in Duchenne muscular dystrophy in Scotland
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M. Di Marco, S. Joseph, I. Horrocks, S.F. Ahmed, S.C. Wong
14. Colonic distension treatment in Duchenne muscular dystrophy - response
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Andrea Vianello, Giovanna Arcaro
15. Replication studies of MIR149 association in Charcot–Marie–Tooth disease type 1A in a European population
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Feifei Tao, the Inherited Neuropathy Consortium, Stephan Züchner
16. Replication studies of MIR149 association in Charcot–Marie–Tooth disease type 1A in a European population - response
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Byung-Ok Choi, Soo Hyun Nam, Ki Wha Chung
17. Genetic Neuromuscular Disorders: A Case-Based Approach 2nd Edition Corrado Angelini. Springer Softcover £109.99, eBook £87.50
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Meriel McEntagar
18. “Acquired Neuromuscular Disorders - Pathogenesis, Diagnosis and Treatment”, Corrado Angelini. Springer international Publishing, Switzerland (2016), –byISBN 978-3-319-29512-1, ISBN 978-3-319-29514-5 (eBook). 288 pages
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Heidelinde Damian
19. Professor Frank Lehmann-Horn, M.D. (1948–2018)
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Reinhardt Rüdel
19. Professor Frank Lehmann-Horn, M.D. (1948–2018)
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Reinhardt Rüdel
