HomozygousPPT1Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

(2016) Kiterie M.E. Faller et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for aCLN5Nonsense Mutation Previously Identified in Border Collies

(2016) A. Kolicheski et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas

(2016) Akanksha Ashwini et al.   MOLECULAR GENETICS AND METABOLISM

Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis

(2016) Gewalin Aungaroon et al.   PEDIATRIC NEUROLOGY

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

(2015) Sara E. Mole et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

(2015) Juyuan Guo et al.   BMC Veterinary Research

Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1 R151X mouse model of INCL

(2015) Vaughn Thada et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5

(2015) D. Gilliam et al.   MOLECULAR GENETICS AND METABOLISM

Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

(2015) Jui-Yun Lu et al.   MOLECULAR GENETICS AND METABOLISM

Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis

(2015) Brian R. Vuillemenot et al.   MOLECULAR GENETICS AND METABOLISM

The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

(2014) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry

(2014) Juyuan Guo et al.   MOLECULAR GENETICS AND METABOLISM

Mice homozygous for c.451C>T mutation inCln1gene recapitulate INCL phenotype

(2014) Ashleigh Bouchelion et al.   Annals of Clinical and Translational Neurology

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

Treatment of the Ppt1–/– Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis With the N-methyl-d-aspartate (NMDA) Receptor Antagonist Memantine

(2013) Rozzy Finn et al.   JOURNAL OF CHILD NEUROLOGY

Neuroprotection and lifespan extension in Ppt1 −/− mice by NtBuHA: therapeutic implications for INCL

(2013) Chinmoy Sarkar et al.   NATURE NEUROSCIENCE

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

(2011) Fabiana H.G. Farias et al.   NEUROBIOLOGY OF DISEASE

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

(2011) Anne Wöhlke et al.   PLoS Genetics

A Missense Mutation in CanineCLN6in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis

(2010) Martin L. Katz et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund

(2010) Douglas N. Sanders et al.   MOLECULAR GENETICS AND METABOLISM