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Spinal Muscular Atrophy Medicine & Life Sciences
Ataxia Telangiectasia Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences
Intermediate Filaments Medicine & Life Sciences
Spinal Muscular Atrophies of Childhood Medicine & Life Sciences
Mutation Medicine & Life Sciences
Axons Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 1984 2018

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Jerath, N. U., Mankodi, A., Crawford, T. O., Grunseich, C., Baloui, H., Nnamdi-Emeratom, C., Schindler, A. B., Heiman-Patterson, T., Chrast, R. & Shy, M. E. May 1 2018 In : Muscle and Nerve. 57, 5, p. 749-755 7 p.

Research output: Contribution to journalArticle

Mutation
Inborn Genetic Diseases
Neural Conduction
Genetic Testing
Scoliosis

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Finkel, R. S. , Mercuri, E. , Meyer, O. H. , Simonds, A. K. , Schroth, M. K. , Graham, R. J. , Kirschner, J. , Iannaccone, S. T. , Crawford, T. O. , Woods, S. , Muntoni, F. , Wirth, B. , Montes, J. , Main, M. , Mazzone, E. S. , Vitale, M. , Snyder, B. , Quijano-Roy, S. , Bertini, E. , Davis, R. H. & 2 others Qian, Y. & Sejersen, T. Jan 1 2018 (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Ethics
Immunization
Lung
Standard of Care
Type 2A Charcot-Marie-Tooth disease

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016

Finkel, R. S. , Sejersen, T. , Mercuri, E. , Bertini, E. , Chen, K. , Crawford, T. O. , Dubowitz, V. , de Lemus, M. , Graham, R. , Hurst Davis, R. , Iannaccone, S. , Kirschner, J. , Main, M. , Mayer, O. , Mazzone, E. , Montes, J. , Muntoni, F. , Murphy, A. , Quijano-Roy, S. , Robertson, A. & 9 others Schroth, M., Simonds, A., Snyder, B., Vitale, M., Wittchen, A., Woods, S., Qian, Y., Wirth, B. & ENMC SMA Workshop Study Group Jun 1 2017 In : Neuromuscular Disorders. 27, 6, p. 596-605 10 p.

Research output: Contribution to journalArticle

Clinical trial of L-carnitine and valproic acid in spinal muscular atrophy type I

Krosschell, K. J. , Kissel, J. T. , Townsend, E. L. , Simeone, S. D. , Zhang, R. Z. , Reyna, S. P. , Crawford, T. O. , Schroth, M. K. , Acsadi, G. , Kishnani, P. S. , Von Kleist-Retzow, J. C. , Hero, B. , D'Anjou, G. , Smith, E. C. , Elsheikh, B. , Simard, L. R. , Prior, T. W. , Scott, C. B. , Lasalle, B. , Sakonju, A. & 2 others Wirth, B. & Swoboda, K. J. 2017 (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Spinal Muscular Atrophies of Childhood
Carnitine
Valproic Acid
Clinical Trials
Safety