Results 161 to 170 of about 3,090 (194)

Adult (Chronic) GM2 Gangliosidosis

Archives of Neurology, 1976
Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop, spasticity, mild ataxia of limbs and trunk, dystonic features, and dysarthria.
I, Rapin, K, Suzuki, K, Suzuki, M P, Valsamis   +3 more
openaire   +2 more sources

GM2 gangliosidosis AB variant

Neurology, 1999
To determine the clinical features and biochemical basis of the first Japanese patient with the GM2 gangliosidosis AB variant.The clinical manifestations and laboratory findings in the patient were investigated. Cultured fibroblasts from the patient were analyzed by means of immunofluorescence staining with an anti-GM2 ganglioside monoclonal antibody ...
H, Sakuraba, K, Itoh, M, Shimmoto, K, Utsumi, R, Kase, Y, Hashimoto, T, Ozawa, Y, Ohwada, G, Imataka, M, Eguchi, T, Furukawa, U, Schepers, K, Sandhoff   +12 more
openaire   +2 more sources

STEM CELLS AND GM2 GANGLIOSIDOSIS

2005
Relazione su ...
MARTINO, Sabata, ORLACCHIO, Aldo
openaire   +1 more source

GM2-gangliosidosis

Clinical Neurology and Neurosurgery, 1990
P. Praamstra, R.A. Wevers, F.J.M. Gabreëls, J.J. Rotteveel, W.O. Renier, R.C.A. Sengers, K.J.B. Lamers   +6 more
openaire   +1 more source

GM2 gangliosidosis variant B1 neuroradiological findings.

Journal of neurology, 2003
Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms ranging from infantile to juvenile. We report the first magnetic resonance imaging (MRI) findings from three patients affected by GM2 gangliosidosis variant B1, two presenting with the infantile form and one with the juvenile form.
Grosso, S., Farnetani, M. A., Berardi, R., Margollicci, M., Galluzzi, P., Vivarelli, R., Morgese, G., Balestri, P.   +7 more
openaire   +3 more sources

Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review

European Journal of Neurology, 2023
Vahid Mansouri, Ali Reza Tavasoli, Mahmoud Reza Ashrafi   +2 more
exaly  

A case of the B1 variant of GM2‐gangliosidosis

Journal of Inherited Metabolic Disease, 1990
R G, Gray, A, Green, L, Rabb, D M, Broadhead, G T, Besley   +4 more
openaire   +2 more sources

GM2-gangliosidosis

2008
openaire   +2 more sources

GM2 Gangliosidosis

2010
E. Roze, C. Ewenczyk, F. Sedel
openaire   +1 more source

GM2 gangliosidosis variant B1

Journal of Neurology, 2003
Salvatore Grosso, Maria Angela Farnetani, Rosario Berardi, Maria Margollicci, Paolo Galluzzi, Rossella Vivarelli, Guido Morgese, Paolo Ballestri   +7 more
openaire   +1 more source