Dr Helen Young

Senior Lecturer
Paediatrics & Child Health, Northern Clinical School

Telephone 9926 6904
Fax 9926 6155

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Selected publications

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Journals

  • Carss, K., Stevens, E., Foley, A., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., Van Scherpenzeel, M., Moore, S., Young, H., North, K., et al (2013). Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. American Journal of Human Genetics, 93(1), 29-41. [More Information]
  • Arsov, T., Mullen, S., Damiano, J., Lawrence, K., Huh, L., Nolan, M., Young, H., Thouin, A., Dahl, H., Berkovic, S., et al (2012). Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia, 53(12), e204-e207. [More Information]
  • Anderson, V., McKenzie, J., Seton, C., Fitzgerald, D., Webster, R., North, K., Joffe, D., Young, H. (2012). Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders. Neuromuscular Disorders, 22(6), 528-533. [More Information]
  • Forrest, K., Young, H., Dale, R., Gill, D. (2009). Benefit of corticosteroid therapy in Angelman syndrome. Journal of Child Neurology, 24(8), 952-958. [More Information]
  • Young, H., Barton, B., Waisbren, S., Dale, L., Ryan, M., Webster, R., North, K. (2008). Cognitive and psychological profile of males with Becker muscular dystrophy. Journal of Child Neurology, 23(2), 155-162. [More Information]
  • Young, H., Lowe, A., Fitzgerald, D., Seton, C., Waters, K., Kenny, E., Hynan, L., Iannaccone, S., North, K., Ryan, M. (2007). Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology, 68(3), 198-201. [More Information]

2013

  • Carss, K., Stevens, E., Foley, A., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., Van Scherpenzeel, M., Moore, S., Young, H., North, K., et al (2013). Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. American Journal of Human Genetics, 93(1), 29-41. [More Information]

2012

  • Arsov, T., Mullen, S., Damiano, J., Lawrence, K., Huh, L., Nolan, M., Young, H., Thouin, A., Dahl, H., Berkovic, S., et al (2012). Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia, 53(12), e204-e207. [More Information]
  • Anderson, V., McKenzie, J., Seton, C., Fitzgerald, D., Webster, R., North, K., Joffe, D., Young, H. (2012). Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders. Neuromuscular Disorders, 22(6), 528-533. [More Information]

2009

  • Forrest, K., Young, H., Dale, R., Gill, D. (2009). Benefit of corticosteroid therapy in Angelman syndrome. Journal of Child Neurology, 24(8), 952-958. [More Information]

2008

  • Young, H., Barton, B., Waisbren, S., Dale, L., Ryan, M., Webster, R., North, K. (2008). Cognitive and psychological profile of males with Becker muscular dystrophy. Journal of Child Neurology, 23(2), 155-162. [More Information]

2007

  • Young, H., Lowe, A., Fitzgerald, D., Seton, C., Waters, K., Kenny, E., Hynan, L., Iannaccone, S., North, K., Ryan, M. (2007). Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology, 68(3), 198-201. [More Information]

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