• 2557 Citations
  • 15 Scopus h-Index
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Fingerprint Dive into the research topics where Neal Niu is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 8 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Serum Response Factor Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences

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Research Output 2003 2019

  • 2557 Citations
  • 15 Scopus h-Index
  • 34 Article
  • 1 Comment/debate
  • 1 Review article

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Liewluck, T., Niu, Z., Moore, S. A., Alsharabati, M. & Milone, M., Jan 1 2019, In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Muscular Diseases
Nuclear Family

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Kiessling, P., Dowling, E., Huang, Y., Ho, M. L., Balakrishnan, K., Weigel, B. J., Highsmith, W. E. J., Niu, Z. & Schimmenti, L. A., Apr 1 2019, In : Cold Spring Harbor molecular case studies. 5, 2

Research output: Contribution to journalArticle

Open Access
Gardner Syndrome
Tooth Abnormalities
APC Genes

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Sun, C., Song, J., Jiang, Y., Zhao, C., Lu, J., Li, Y., Wang, Y., Gao, M., Xi, J., Luo, S., Li, M., Donaldson, K., Oprescu, S. N., Slavin, T. P., Lee, S., Magoulas, P. L., Lewis, A. M., Emrick, L., Lalani, S. R., Niu, Z. & 10 others, Landsverk, M. L., Walkiewicz, M., Person, R. E., Mei, H., Rosenfeld, J. A., Yang, Y., Antonellis, A., Hou, Y. M., Lin, J. & Zhang, V. W., Apr 1 2019, In : Neurology: Genetics. 5, 2, e316.

Research output: Contribution to journalArticle

Open Access
Lysine-tRNA Ligase
Missense Mutation

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance

Mauermann, M. M., Niu, Z., Renaud, D. L., Kemppainen, J. L., Schultz, M. J. & Klein, C. J., Jan 1 2019, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Peripheral Nervous System Diseases
2 Citations (Scopus)

A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

Madigan, N. N., Tracy, J. A., Litchy, W. J., Niu, Z., Chen, C., Ling, K. & Milone, M., Dec 1 2018, In : Neurology: Genetics. 4, 6, e287.

Research output: Contribution to journalArticle

tropomyosin kinase
Vacuolar myopathy