Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

Natural History of Adult Patients with GM2 Gangliosidosis

(2020) Marion Masingue et al.   ANNALS OF NEUROLOGY

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

(2020) Ana Töpf et al.   GENETICS IN MEDICINE

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies

(2020) Andrés Felipe Leal et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis

(2019) Maria Khoueiry et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Genetics and Therapies for GM2 Gangliosidosis

(2018) Maria Begona Cachon-Gonzalez et al.   CURRENT GENE THERAPY

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation

(2018) Maria L. Allende et al.   JOURNAL OF LIPID RESEARCH

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2Gangliosidosis in Sandhoff Mice

(2016) Karlaina J.L. Osmon et al.   HUMAN GENE THERAPY

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis

(2013) Naoko Yasui et al.   JOURNAL OF HUMAN GENETICS

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

(2013) K. Sandhoff et al.   JOURNAL OF NEUROSCIENCE

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

(2013) Teruo Yokoyama et al.   NEUROPATHOLOGY

GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients

(2012) Laura Gort et al.   GENE

Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype

(2012) Kenichiro Yamada et al.   JOURNAL OF BIOCHEMISTRY

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