Works (4)

2020 journal article

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels

Neuromuscular Disorders, 30(5), 353–359.

By: N. Olby, S. Friedenberg, K. Meurs, D. DeProspero, J. Guevar, J. Lau n, O. Yost, L. Guo*, G. Shelton*

author keywords: Canine; Centronuclear myopathy; Myotubularin myopathy
Sources: Web Of Science, ORCID, Crossref
Added: June 29, 2020

2019 journal article

A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death

Human Genetics, 138(5), 515–524.

By: K. Meurs, S. Friedenberg, J. Kolb*, C. Saripalli*, P. Tonino*, K. Woodruff n, N. Olby, B. Keene ...

Sources: Web Of Science, ORCID, Crossref
Added: June 17, 2019

2018 journal article

A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers

Journal of Veterinary Internal Medicine, 32(3), 986–992.

By: S. Friedenberg*, D. Vansteenkiste*, O. Yost, A. Treeful*, K. Meurs, D. Tokarz, N. Olby

author keywords: bone; cartilage; genetics; multiple cartilaginous exostoses; mutation; osteochondroma
Sources: Web Of Science, ORCID, Crossref
Added: August 6, 2018

2018 journal article

Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene

Journal of Veterinary Internal Medicine, 32(2), 665–669.

By: J. Guevar, N. Olby, K. Meurs, O. Yost & S. Friedenberg*

author keywords: deafness; Doberman Pinscher; genetics; PTPRQ; vestibular disease
Sources: Web Of Science, ORCID, Crossref
Added: August 6, 2018