A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

• Saima Siddiqi ,

  Contributed equally to this work with: Saima Siddiqi, Jia Nee Foo

  Affiliation Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan

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• Jia Nee Foo ,

  Contributed equally to this work with: Saima Siddiqi, Jia Nee Foo

  * E-mail: foojn@gis.a-star.edu.sg

  Affiliation Human Genetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore

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• Anthony Vu,

  Affiliation Department of Cellular and Molecular Medicine and Institute for Genomic Medicine, University of California at San Diego, La Jolla, California, United States of America

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• Saad Azim,

  Affiliation Ali Medical Center, F8/1, Islamabad, Pakistan

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• David L. Silver,

  Affiliation Signature Research Program in Cardiovascular & Metabolic Disorders, Duke-NUS Graduate Medical School, Singapore, Singapore

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• Atika Mansoor,

  Affiliation Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan

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• Stacey Kiat Hong Tay,

  Affiliation Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

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• Sumiya Abbasi,

  Affiliation International Islamic University, Islamabad, Pakistan

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• Asraf Hussain Hashmi,

  Affiliation Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan

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• Jamal Janjua,

  Affiliation College of Physicians and Surgeons (CPSP), Islamabad, Pakistan

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• Sumbal Khalid,

  Affiliation International Islamic University, Islamabad, Pakistan

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• E. Shyong Tai,

  Affiliations Signature Research Program in Cardiovascular & Metabolic Disorders, Duke-NUS Graduate Medical School, Singapore, Singapore, Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Hospital System, Singapore, Singapore, Saw Swee Hock School of Public Health, National University of Singapore, National University Hospital System, Singapore, Singapore

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• Gene W. Yeo,

  Affiliations Department of Cellular and Molecular Medicine and Institute for Genomic Medicine, University of California at San Diego, La Jolla, California, United States of America, Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

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• Chiea Chuen Khor

  Affiliations Human Genetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore, Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

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