Reimar Junckerstorff

Dr

  • The University of Western Australia (M504), 35 Stirling Highway,

    6009 Perth

    Australia

  • 270 Citations
  • 8 h-Index
20112019
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Fingerprint Dive into the research topics where Reimar Junckerstorff is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 17 Similar Profiles
Muscular Diseases Medicine & Life Sciences
Myositis Medicine & Life Sciences
Muscles Medicine & Life Sciences
Choline Kinase Medicine & Life Sciences
Distal Myopathies Medicine & Life Sciences
Central Nervous System Neoplasms Medicine & Life Sciences
Cystinosis Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 2011 2019

  • 270 Citations
  • 8 h-Index
  • 12 Article
  • 2 Conference paper
  • 1 Letter
  • 1 Review article

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Muscle Development
Muscular Diseases
Muscles
Bardet-Biedl Syndrome
Mutation

The case for DNA methylation based molecular profiling to improve diagnostic accuracy for central nervous system embryonal tumors (not otherwise specified) in adults

Halliday, G. C., Junckerstorff, R., Bentel, J., Miles, A., Jones, D. T. W., Hovestadt, V., Capper, D., Endersby, R., Cole, C., Van Hagen, T. & Gottardo, N., Jan 2018, In : Journal of Clinical Neuroscience. 47, p. 163-167

Research output: Contribution to journalArticle

Open Access
Central Nervous System Neoplasms
DNA Methylation
Neoplasms
Brain Neoplasms
Astrocytoma
6 Citations (Scopus)
116 Downloads (Pure)

Vascular targeting of LIGHT normalizes blood vessels in primary brain cancer and induces intratumoural high endothelial venules

He, B., Jabouille, A., Steri, V., Johansson-Percival, A., Michael, I. P., Kotamraju, V. R., Junckerstorff, R., Nowak, A. K., Hamzah, J., Lee, G., Bergers, G. & Ganss, R., 1 Jun 2018, In : Journal of Pathology. 245, 2, p. 209-221 13 p.

Research output: Contribution to journalArticle

Open Access
File
Venules
Brain Neoplasms
Blood Vessels
Glioblastoma
Light
1 Citation (Scopus)
120 Downloads (Pure)

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Cabrera, M., Junckerstorff, R. C., Alisheri, A., Pestronk, A., Laing, N. G., Weihl, C. C. & Lamont, P. J., Sep 2017, In : Neuromuscular Disorders. 27, 9, p. 873-878

Research output: Contribution to journalArticle

Open Access
File
Distal Myopathies
Cystinosis
Siblings
Cysteamine
Muscles
1 Citation (Scopus)

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

Balasubramaniam, S., Riley, L. G., Vasudevan, A., Cowley, M. J., Gayevskiy, V., Sue, C. M., Edwards, C., Edkins, E., Junckerstorff, R., Kiraly-Borri, C., Rowe, P. & Christodoulou, J., 21 Nov 2017, In : JIMD reports. p. 1-11

Research output: Contribution to journalArticle

Mitochondrial Diseases
Phenotype
Autophagy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Muscular Diseases