Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing

Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7

(2016) Leslie A. Lyons et al.   BMC GENOMICS

COLQvariant associated with Devon Rex and Sphynx feline hereditary myopathy

(2015) Barbara Gandolfi et al.   ANIMAL GENETICS

DNA mutations of the cat

(2015) Leslie A Lyons   JOURNAL OF FELINE MEDICINE AND SURGERY

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

(2015) Neil A. Miller et al.   Genome Medicine

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Genetic and laboratory diagnostic approach in Niemann Pick disease type C

(2014) K. McKay Bounford et al.   JOURNAL OF NEUROLOGY

Niemann–Pick disease type C: introduction and main clinical features

(2014) A. Burlina   JOURNAL OF NEUROLOGY

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

(2014) Stefania Zampieri et al.   PLoS One

Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication

(2014) Michael J. Montague et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Personalized Medicine and Human Genetic Diversity

(2014) Y.-F. Lu et al.   Cold Spring Harbor Perspectives in Medicine

Electrodiagnostic Testing and Histopathologic Changes Confirm Peripheral Nervous System Myelin Abnormalities in the Feline Model of Niemann-Pick Disease Type C

(2013) Jessica H. Bagel et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C

(2012) Veronika M. Stein et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease

(2010) Sarah Ward et al.   PEDIATRIC RESEARCH

Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C Disease

(2008) Charles H Vite et al.   PEDIATRIC RESEARCH