Natural history of Tay-Sachs disease in sheep

A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease

(2021) Valeria Bertani et al.   MOLECULAR GENETICS AND METABOLISM

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis

(2020) Christopher D. Stephen et al.   NEUROLOGY

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

(2020) Nicole Lyn et al.   Orphanet Journal of Rare Diseases

Heterogeneity of activity-induced sodium transients between astrocytes of the mouse hippocampus and neocortex: Mechanisms and consequences

(2019) Daniel Ziemens et al.   JOURNAL OF NEUROSCIENCE

7T MRI Predicts Amelioration of Neurodegeneration in the Brain after AAV Gene Therapy

(2019) Heather L. Gray-Edwards et al.   Molecular Therapy-Methods & Clinical Development

Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease

(2018) Volkan Seyrantepe et al.   EXPERIMENTAL NEUROLOGY

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model

(2017) Heather L. Gray-Edwards et al.   MOLECULAR THERAPY

AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease

(2017) Allison M. Bradbury et al.   NEUROSCIENCE

Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy

(2017) Heather L. Gray-Edwards et al.   Molecular Therapy-Methods & Clinical Development

AAV-Mediated Gene Delivery in a Feline Model of Sandhoff Disease Corrects Lysosomal Storage in the Central Nervous System

(2015) Hannah E. Rockwell et al.   ASN Neuro

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

(2015) Allison M. Bradbury et al.   EXPERIMENTAL NEUROLOGY

Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy

(2015) Heather L. Gray-Edwards et al.   MOLECULAR GENETICS AND METABOLISM

Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease

(2014) V J McCurdy et al.   GENE THERAPY

Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy

(2013) Allison M Bradbury et al.   MOLECULAR THERAPY

Late onset GM2gangliosidosis presenting with motor neuron disease: An autopsy case

(2013) Teruo Yokoyama et al.   NEUROPATHOLOGY

Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency

(2011) M. Kornfeld   CLINICAL NEUROPATHOLOGY

Teaching NeuroImages: MRI in infantile Sandhoff disease

(2011) R. Seshadri et al.   NEUROLOGY

Natural History of Infantile GM2 Gangliosidosis

(2011) A. E. Bley et al.   PEDIATRICS

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

(2010) Marjan E. Steenweg et al.   BRAIN

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

(2010) C. C. S. Delnooz et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Infantile Sandhoff's Disease With Peripheral Neuropathy

(2010) Anuj Jain et al.   PEDIATRIC NEUROLOGY

Pathology of GM2 Gangliosidosis in Jacob Sheep

(2010) B. F. Porter et al.   VETERINARY PATHOLOGY

Serial MR Imaging and1H-MR Spectroscopy in Monozygotic Twins with Tay-Sachs Disease

(2009) A. Imamura et al.   NEUROPEDIATRICS

Lysosomal Storage Disorders in the Newborn

(2009) O. Staretz-Chacham et al.   PEDIATRICS

Imaging MALDI Mass Spectrometry Using an Oscillating Capillary Nebulizer Matrix Coating System and Its Application to Analysis of Lipids in Brain from a Mouse Model of Tay−Sachs/Sandhoff Disease

(2008) Yanfeng Chen et al.   ANALYTICAL CHEMISTRY

Thalamic Changes in Tay-Sachs' Disease

(2008) Suvasini Sharma et al.   ARCHIVES OF NEUROLOGY

Late-onset Tay-Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients

(2008) Barbara E. Shapiro et al.   MUSCLE & NERVE