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February 15, 2021.
ARTICLES IN PRESS: NEUROMUSCULAR DISORDERS Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre. Ros Quinlivan, Mahalekshmi Desikan, Francis Cruces, Aleksandra Pietrusz, Konstantinos Savvatis. Published online: April 26, 2021. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy. Dawn N. O'Dowd, Emma L. Bostock, Dave Smith, Christopher I. Morse, Paul Orme, Carl J. Payton. Published online: January 18, 2021. p328-335. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace. on behalf of the ENMC workshop study group. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. Renata S. Scalco, Rosaline M. Quinlivan, Laura Nastasi, Fatima Jaffer, Michael G. Hanna. Published online: December 03, 2019. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant) Paloma Gonzalez-Perez, Cheryl Smith, Wendy L. Sebetka, Amber Gedlinske, Seth Perlman, Katherine D Mathews. Published online: January 25, 2020.p213-218.
EDITORIAL BOARD: NEUROMUSCULAR DISORDERS Editorial Board Editor-in-Chief. A. Oldfors, University of Gothenburg, 405 30, Gothenburg, Sweden; Editorial Assistant. J. Miller, University College London Institute TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO) Andres Berardo, Jorida Çoku, Bulent Kurt, Salvatore DiMauro, Michio Hirano. Published in issue: March 2010. p204-206. Full-TextHTML.
HOME PAGE: NEUROMUSCULAR DISORDERS x Deficiency of Adenosine Deaminase 2 (DADA2) is an autosomal recessive inflammatory vasculopathy described in 2014. (1,2) It is caused by a loss-of-function mutation of adenosine deaminase 2 (ADA2) gene. One of its phenotypes is characterized by systemic vasculitis, early-onset stroke and a livedoid rash known as livedo racemosa (LR). LIST OF ISSUES: NEUROMUSCULAR DISORDERS July 2020 Issue 7, p533-620. June 2020 Issue 6, p437-532. May 2020 Issue 5, p353-436. April 2020 Issue 4, p267-352. March 2020 Issue 3, p181-266. February 2020 Issue 2, p105-180. January 2020 Issue 1, p1-104. October 2020 Supplement 1 S1-S174. CURRENT ISSUE TABLE OF CONTENTS: NEUROMUSCULAR DISORDERS Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines. Jessica Trenkle, Jessica Brugman, Anne Peterson, Katherine Roback, Kristin J. Krosschell. Published online:February 15, 2021.
ARTICLES IN PRESS: NEUROMUSCULAR DISORDERS Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre. Ros Quinlivan, Mahalekshmi Desikan, Francis Cruces, Aleksandra Pietrusz, Konstantinos Savvatis. Published online: April 26, 2021. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy. Dawn N. O'Dowd, Emma L. Bostock, Dave Smith, Christopher I. Morse, Paul Orme, Carl J. Payton. Published online: January 18, 2021. p328-335. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace. on behalf of the ENMC workshop study group. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. Renata S. Scalco, Rosaline M. Quinlivan, Laura Nastasi, Fatima Jaffer, Michael G. Hanna. Published online: December 03, 2019. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant) Paloma Gonzalez-Perez, Cheryl Smith, Wendy L. Sebetka, Amber Gedlinske, Seth Perlman, Katherine D Mathews. Published online: January 25, 2020.p213-218.
EDITORIAL BOARD: NEUROMUSCULAR DISORDERS Editorial Board Editor-in-Chief. A. Oldfors, University of Gothenburg, 405 30, Gothenburg, Sweden; Editorial Assistant. J. Miller, University College London Institute TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO) Andres Berardo, Jorida Çoku, Bulent Kurt, Salvatore DiMauro, Michio Hirano. Published in issue: March 2010. p204-206. Full-TextHTML.
AIMS AND SCOPE: NEUROMUSCULAR DISORDERS This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS The Association of methylprednisolone dosing to cessation of myotonia in a patient with myotonic dystrophy type 1. Magda Horáková, Tomáš Horák, Josef Bednařík, Stanislav Voháňka. Published online: March18, 2020. p427-430.
TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace. on behalf of the ENMC workshop study group. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy. Avivit Brener, Liora Sagi, Anna Shtamler, Sigal Levy, Aviva Fattal-Valevski, Yael Lebenthal. Published online: September 20, 2020. p888-896. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease. Renée Barreda Fierro, Patricia Herrera Mora, Juan Carlos Zenteno, Camilo E. Villarroel Cortés. Published online: October 19, 2020. p986-990.Full-Text HTML.
TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy. Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Jean K. Mah, Lawrence Charnas, Shannon Marraffino, Brenda L. Wong. Published online: May 18, 2020. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms. Christopher R.S. Banerji, Phillip Cammish, Teresinha Evangelista, Peter S. Zammit, Volker Straub, Chiara LIST OF ISSUES: NEUROMUSCULAR DISORDERS If the address matches a valid account an email will be sent to __email__ with instructions for resetting your password TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Measurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy – A systematic review and evidence synthesis. K. de Valle, J.L. McGinley, I. Woodcock, M.M. Ryan, HOME PAGE: NEUROMUSCULAR DISORDERS x Deficiency of Adenosine Deaminase 2 (DADA2) is an autosomal recessive inflammatory vasculopathy described in 2014. (1,2) It is caused by a loss-of-function mutation of adenosine deaminase 2 (ADA2) gene. One of its phenotypes is characterized by systemic vasculitis, early-onset stroke and a livedoid rash known as livedo racemosa (LR). CURRENT ISSUE TABLE OF CONTENTS: NEUROMUSCULAR DISORDERS Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines. Jessica Trenkle, Jessica Brugman, Anne Peterson, Katherine Roback, Kristin J. Krosschell. Published online:February 15, 2021.
LIST OF ISSUES: NEUROMUSCULAR DISORDERS July 2020 Issue 7, p533-620. June 2020 Issue 6, p437-532. May 2020 Issue 5, p353-436. April 2020 Issue 4, p267-352. March 2020 Issue 3, p181-266. February 2020 Issue 2, p105-180. January 2020 Issue 1, p1-104. October 2020 Supplement 1 S1-S174. AIMS AND SCOPE: NEUROMUSCULAR DISORDERS This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. Renata S. Scalco, Rosaline M. Quinlivan, Laura Nastasi, Fatima Jaffer, Michael G. Hanna. Published online: December 03, 2019. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant) Paloma Gonzalez-Perez, Cheryl Smith, Wendy L. Sebetka, Amber Gedlinske, Seth Perlman, Katherine D Mathews. Published online: January 25, 2020.p213-218.
TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms. Christopher R.S. Banerji, Phillip Cammish, Teresinha Evangelista, Peter S. Zammit, Volker Straub, Chiara TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO) Andres Berardo, Jorida Çoku, Bulent Kurt, Salvatore DiMauro, Michio Hirano. Published in issue: March 2010. p204-206. Full-TextHTML.
TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Table of Contents page: Neuromuscular Disorders. Volume 27 Supplement 2 S51-S270. 22nd International Congress of the World Muscle Society. 03 October 2017 - 07 October 2017. Current Issue. Articles in Press. Archive. Archive. Close. HOME PAGE: NEUROMUSCULAR DISORDERS x Deficiency of Adenosine Deaminase 2 (DADA2) is an autosomal recessive inflammatory vasculopathy described in 2014. (1,2) It is caused by a loss-of-function mutation of adenosine deaminase 2 (ADA2) gene. One of its phenotypes is characterized by systemic vasculitis, early-onset stroke and a livedoid rash known as livedo racemosa (LR). CURRENT ISSUE TABLE OF CONTENTS: NEUROMUSCULAR DISORDERS Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines. Jessica Trenkle, Jessica Brugman, Anne Peterson, Katherine Roback, Kristin J. Krosschell. Published online:February 15, 2021.
LIST OF ISSUES: NEUROMUSCULAR DISORDERS July 2020 Issue 7, p533-620. June 2020 Issue 6, p437-532. May 2020 Issue 5, p353-436. April 2020 Issue 4, p267-352. March 2020 Issue 3, p181-266. February 2020 Issue 2, p105-180. January 2020 Issue 1, p1-104. October 2020 Supplement 1 S1-S174. AIMS AND SCOPE: NEUROMUSCULAR DISORDERS This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. Renata S. Scalco, Rosaline M. Quinlivan, Laura Nastasi, Fatima Jaffer, Michael G. Hanna. Published online: December 03, 2019. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant) Paloma Gonzalez-Perez, Cheryl Smith, Wendy L. Sebetka, Amber Gedlinske, Seth Perlman, Katherine D Mathews. Published online: January 25, 2020.p213-218.
TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms. Christopher R.S. Banerji, Phillip Cammish, Teresinha Evangelista, Peter S. Zammit, Volker Straub, Chiara TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO) Andres Berardo, Jorida Çoku, Bulent Kurt, Salvatore DiMauro, Michio Hirano. Published in issue: March 2010. p204-206. Full-TextHTML.
TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Table of Contents page: Neuromuscular Disorders. Volume 27 Supplement 2 S51-S270. 22nd International Congress of the World Muscle Society. 03 October 2017 - 07 October 2017. Current Issue. Articles in Press. Archive. Archive. Close. ARTICLES IN PRESS: NEUROMUSCULAR DISORDERS Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre. Ros Quinlivan, Mahalekshmi Desikan, Francis Cruces, Aleksandra Pietrusz, Konstantinos Savvatis. Published online: April 26, 2021. AIMS AND SCOPE: NEUROMUSCULAR DISORDERS This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS 1st Sitting Workshop for neuromuscular disorders Denmark, 30 September - 1 October 2019. Imelda JM de Groot, Ulla Werlauff. Working group TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy. Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Jean K. Mah, Lawrence Charnas, Shannon Marraffino, Brenda L. Wong. Published online: May 18, 2020. EDITORIAL BOARD: NEUROMUSCULAR DISORDERS Editorial Board Editor-in-Chief. A. Oldfors, University of Gothenburg, 405 30, Gothenburg, Sweden; Editorial Assistant. J. Miller, University College London Institute TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace. on behalf of the ENMC workshop study group. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre. Enrico Bugiardini, Alaa M. Khan, Rahul Phadke, Henry Houlden, Emma Matthews, Michael G. Hanna. Published online: August 19, 2019. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS 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. Sonia Messina, Anna Lia Frongia, Laura Antonaci, Francesco Muntoni, Eugenio Mercuri. on behalf of the ISMAc group. Published online: October 22, 2019. TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS 243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March2019
TABLE OF CONTENTS PAGE: NEUROMUSCULAR DISORDERS We use cookies to help provide and enhance our service and tailor content. To update your cookie settings, please visit the Cookie Preference Center for this site. Skip to Main Content__
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Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies C.A. Sewry, L. Feng, D. Chambers, E. Matthews, R. Phadke DOI: https://doi.org/10.1016/j.nmd.2021.02.007 Vol. 31, Issue 5, p371–384 Published online: February 11, 2021Full-Text HTML
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Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial Richard S. Finkel, Erika Finanger, Krista Vandenborne, H. Lee Sweeney, Gihan Tennekoon, Perry B. Shieh, Rebecca Willcocks, Glenn Walter, William D. Rooney, Sean C. Forbes, William T. Triplett, Sabrina W. Yum, Maria Mancini, James MacDougall, Angelika Fretzen, Pradeep Bista, Andrew Nichols, Joanne M. Donovan DOI: https://doi.org/10.1016/j.nmd.2021.02.001 Vol. 31, Issue 5, p385–396 Published online: February 3, 2021Open AccessFull-Text HTML
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Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines Jessica Trenkle, Jessica Brugman, Anne Peterson, Katherine Roback, Kristin J. Krosschell DOI: https://doi.org/10.1016/j.nmd.2021.02.011 Vol. 31, Issue 5, p397–408 Published online: February 15, 2021Full-Text HTML
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Safety and clinical outcome of tamoxifen in Duchenne MuscularDystrophy
Reuven Tsabari, Elana Simchovitz, Eran Lavi, Osnat Eliav, Ran Avrahami, Shmuel Ben-Sasson, Talya Dor DOI: https://doi.org/10.1016/j.nmd.2021.05.005 Publication stage: In Press Journal Pre-Proof PreviewFull-Text HTML4th decade .
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A novel _MT-CO2_ variant causing cerebellar ataxia and neuropathy: the role of muscle biopsy in diagnosis and defining pathogenicity Karen Baty, Maria E. Farrugia, Sila Hopton, Gavin Falkous, Andrew M. Schaefer, William Stewart, Hugh J. Willison, Mary M. Reilly, Emma L. Blakely, Robert W. Taylor, Yi Shiau Ng DOI: https://doi.org/10.1016/j.nmd.2021.05.014 Publication stage: In Press Journal Pre-Proof PreviewFull-Text HTMLSupplemental
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xThe phenotypic spectrum and genetic aetiology of mitochondrial disease are heterogeneous and the diagnostic challenges are well-recognised. The increased application of whole exome sequencing (WES) and whole genome sequencing (WGS) as a first step in the diagnostic pathway has successfully identified many novel Mendelian mitochondrial genes or new pathogenic variants in known disease genes over the last decade. In the adult population, around two thirds of patients with mitochondrial disease have pathogenic mitochondrial DNA (mtDNA) variants of which some of these variants cannot be reliably detected in blood.*
Intrafamilial phenotypic heterogeneity related to a new _DMD_ splicesite variant
Antonio Rodrigues Coimbra Neto, Samara Camaçari de Carvalho, Tauana Bernardes Leoni, Cristina Iwabe, Thiago Quinaglia Araújo Costa Silva, Otavio Rizzi Coelho-Filho, Maria Julia Marques, Anamarli Nucci, Marcondes Cavalcante França Jr DOI: https://doi.org/10.1016/j.nmd.2021.05.013 Publication stage: In Press Journal Pre-Proof PreviewFull-Text HTML*
Musculoskeletal Magnetic Resonance Imaging in the DE50-MD dog model of Duchenne Muscular Dystrophy Natasha L. Hornby, Randi Drees, Rachel Harron, Ruby Chang, Dominic J. Wells, Richard J. Piercy DOI: https://doi.org/10.1016/j.nmd.2021.05.010 Publication stage: In Press Journal Pre-ProofOpen Access
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xAbbreviations (for footnote)*
Characteristics of Guillain-Barré Syndrome in a Lebanese TertiaryCare Center
Helen Ismail, Elia Malek, Lea Saroufim, Johnny Salameh DOI: https://doi.org/10.1016/j.nmd.2021.05.012 Publication stage: In Press Journal Pre-Proof PreviewFull-Text HTMLdeath .
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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic andnutritional care
Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen for the SMA CareGroup
DOI: https://doi.org/10.1016/j.nmd.2017.11.005 Vol. 28, Issue 2, p103–115 Published online: November 23, 2017Open AccessFull-Text HTML
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Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics Richard S. Finkel, Eugenio Mercuri, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Ying Qian, Thomas Sejersen for the SMA Care group DOI: https://doi.org/10.1016/j.nmd.2017.11.004 Vol. 28, Issue 3, p197–207 Published online: November 22, 2017Open AccessFull-Text HTML
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SMA – THERAPY: P.266 Nusinersen in infantile-onset spinal muscular atrophy: results from longer-term treatment from the open-label SHINEextension study
R. Finkel, D. Castro, M. Farrar, M. Tulinius, K. Krosschell, K. Saito, G. Gambino, R. Foster, D. Ramirez-Schrempp, J. Wong, B. Kandinov, W.Farwell
DOI: https://doi.org/10.1016/j.nmd.2020.08.265Vol. 30, S124
Published in issue: October 2020Full-Text HTML
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Developmental milestones in type I spinal muscular atrophy Roberto De Sanctis, Giorgia Coratti, Amy Pasternak, Jacqueline Montes, Marika Pane, Elena S. Mazzone, Sally Dunaway Young, Rachel Salazar, Janet Quigley, Maria C. Pera, Laura Antonaci, Leonardo Lapenta, Allan M. Glanzman, Danilo Tiziano, Francesco Muntoni, Basil T. Darras, Darryl C. De Vivo, Richard Finkel, Eugenio Mercuri DOI: https://doi.org/10.1016/j.nmd.2016.10.002 Vol. 26, Issue 11, p754–759 Published online: October 5, 2016Open AccessFull-Text HTML
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224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14–16 October 2016 Yves Allenbach, Andrew L. Mammen, Olivier Benveniste, Werner Stenzel on behalf of the Immune-Mediated Necrotizing Myopathies Working Group DOI: https://doi.org/10.1016/j.nmd.2017.09.016 Vol. 28, Issue 1, p87–99 Published online: October 23, 2017Full-Text HTML
2020 CITED ARTICLES
ISSN%280960-8966%29+AND+PUBYEAR+IS+2020+ ------------------------- * 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10–12, 2019, Hoofdorp, The Netherlands * 239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018 * Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy * Mutations in the J domain of DNAJB6 cause dominant distal myopathy * Guillain-Barré-Strohl syndrome and COVID-19: Case report andliterature review
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Full-text articles are available from 1991 to the present. Access to abstracts is complimentary. Access to full text is limited to print subscribers. Register or login to: Activate Online Access World Muscle Society members: Log in here for direct access to the full-text journal. ABOUT _NEUROMUSCULAR DISORDERS_ This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies).ABOUT WMS
It shall be the Aims of the WMS: * to provide a multidisciplinary scientific forum to advance and disseminate knowledge in the neuromuscular field for the benefit ofpatients;
* to stimulate, encourage and help to develop programs for professionals working in the neuromuscular field; * to encourage multidisciplinary collaboration; * to provide opportunities for young investigators in the neuromuscular field; * to promote the achievement of standards in clinical practice. PUBLISHING INFORMATION _Neuromuscular Disorders_ is published by Elsevier for the World Muscle Society.
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