Results 141 to 150 of about 3,090 (194)

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease. [PDF]

Neurol Int
González-Sánchez M, Ramírez-Expósito MJ, Martínez-Martos JM.   +2 more
europepmc   +1 more source

Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. [PDF]

Ther Innov Regul Sci
Farmer C, Kim V, Das T, Cutler S, Wallis H, Thurm A.   +5 more
europepmc   +1 more source

Intrathecal delivery of AAVrh10-mHexa combined with anti-inflammatory treatment reduces neuropathological markers and extends the lifespan of mice with early-onset Tay-Sachs disease. [PDF]

Metab Brain Dis
Can M, Ausseil J, Seyrantepe V.
europepmc   +1 more source

Determination the main gene mutation of orphan neurological diseases in children [PDF]

, 2017
Karabekova, А.
core  

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GM2 gangliosidosis in a Japanese Spaniel

Acta Neuropathologica, 1985
A storage disease in a 2-year-old Japanese Spaniel resembled a GM2 gangliosidosis previously identified in a now extinct line of German Shorthaired Pointers. Despite a later appearance of signs in the Japanese Spaniel, the distribution, staining, and ultrastructure of the stored material were similar in the two breeds.
P A Wood, A de Lahunta
exaly   +3 more sources

Mutation in GM2-Gangliosidosis B1 Variant

Journal of Neurochemistry, 1988
Abstract: Fibroblasts from a patient with GM2‐gangliosidosis B1 variant contained mRNA of normal size but in reduced quantity for the β‐hexosaminidase α subunit. The nucleotide sequence of a cDNA clone that included the entire protein coding sequence was completely normal except for a sinde base substitution from G to A at no.
K, Ohno, K, Suzuki
exaly   +3 more sources

Substrate reduction therapy in juvenile GM2 gangliosidosis

Molecular Genetics and Metabolism, 2009
Substrate reduction therapy (SRT) is considered to be a potential therapeutic option for juvenile GM2 gangliosidosis (jGM2g). We evaluated the efficacy of SRT in jGM2g, assessing neurological, neuropsychological and brain magnetic resonance imaging (MRI) outcomes over a 24-month period of treatment.
Gustavo H B Maegawa, Brenda Banwell, Susan Blaser   +2 more
exaly   +3 more sources

Testing sheep for GM2 gangliosidosis

Veterinary Record, 2014
GM2 gangliosidosis (Tay-Sachs disease) in British Jacob sheep was reported in Veterinary Record by Wessels and colleagues ( VR , January 4, 2014, vol 174, pp 20-21). These authors described the clinical and pathological findings associated with this disabling disease, which is inherited as an autosomal recessive condition.
Lewis, Chris, Wessels, Mark, Carty, Helen, Baird, Pauline, Cox, Timothy, Cachón, Begoña, Wang, Susan, Holmes, Paul, Mackintosh, Adrienne, Chianini, Francesca   +9 more
openaire   +2 more sources

GM2 Gangliosidosis in British Jacob Sheep

Journal of Comparative Pathology, 2014
GM2 gangliosidosis (Tay-Sachs disease) was diagnosed in 6- to 8-month-old pedigree Jacob lambs from two unrelated flocks presenting clinically with progressive neurological dysfunction of 10 day's to 8 week's duration. Clinical signs included hindlimb ataxia and weakness, recumbency and proprioceptive defects.
M E, Wessels, J P, Holmes, M, Jeffrey, M, Jackson, A, Mackintosh, E H, Kolodny, B J, Zeng, C B, Wang, S F E, Scholes   +8 more
openaire   +2 more sources

GM2 Gangliosidosis in an Adult Pet Rabbit

Journal of Comparative Pathology, 2013
A 1.5-year-old neutered male rabbit was presented with chronic nasal discharge and ataxia. Rapid progression of neurological signs was noted subsequent to general anaesthesia and the rabbit was humanely destroyed due to the poor prognosis. At necropsy examination there were no gross changes affecting the brain or spinal cord.
T, Rickmeyer, S, Schöniger, A, Petermann, K, Harzer, B, Kustermann-Kuhn, H, Fuhrmann, H-A, Schoon   +6 more
openaire   +2 more sources