Results 111 to 120 of about 4,924,951 (177)

B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease. [PDF]

Neuromolecular Med
Yanbul S, Calıskan TU, Turali MC, Seyrantepe V.   +3 more
europepmc   +1 more source

Analysis of Brain Lipids in the Early-Onset Tay-Sachs Disease Mouse Model With the Combined Deficiency of β-Hexosaminidase A and Neuraminidase 3. [PDF]

Front Mol Biosci, 2022
Can M, Sengül T, Demir SA, İnci OK, Basırlı H, Seyrantepe V.   +5 more
europepmc   +1 more source

Investigation of Autophagy Related Markers in Brain Tissue of Early-Onset Tay-Sachs Disease Mouse Models

, 2018
Tay-Sachs hastalığı merkezi sinir sistemini etkileyen, ölümle sonuçlanan ve otozomal resesif bir şekilde aktarılan bir lizozomal depo hastalığıdır. GM2 gangliositinin yıkılmasını sağlayan β-Hexosaminidase A enziminin α-subunitini kodlayan HEXA genindeki ...
Ateş, Nurselin
core  

A novel humanized mouse model exhibits neurobehavioral impairments and recapitulates key neuropathological features of infantile Tay-Sachs disease. [PDF]

J Neuroinflammation
Elbakr L, Forguson G, Truong HA, Hung JE, Chan WS, Kim DK, Brewer RA, Steiman S, Nguyen TQ, Vincent A, Ivakine EA.   +10 more
europepmc   +1 more source

Efficient and precise generation of Tay-Sachs disease model in rabbit by prime editing system. [PDF]

Cell Discov, 2021
Qian Y, Zhao D, Sui T, Chen M, Liu Z, Liu H, Zhang T, Chen S, Lai L, Li Z.   +9 more
europepmc   +1 more source

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review. [PDF]

Mol Syndromol
Calisgan K, Aghakıshılı HB, Soylu EI, Col TA, Cansever MS, Zubarioglu T, Aktuglu Zeybek AC, Kiykim E.   +7 more
europepmc   +1 more source

Telemedicine and GM-2 gangliosidosis (Tay-Sachs) disease - A new savior on the horizon during COVID-19 pandemic. [PDF]

Indian J Ophthalmol, 2021
Grover R, Sutar S, Juneja S.
europepmc   +1 more source

Tay-sachs disease; MR demonstration: A case report

, 2003
Tay-Sachs hastalığı nadir görülen sfingolipid metabolizma bozukluğudur. Heksozaminidaz A enzim eksikliği sonucu gelişen metabolik duraksama ile GM2 gangliozidler beyin dokusunda anormal birikime uğrarlar.
Serkan Gür, Celal Çınar, Recep Savaş, Bünyamin Güney   +3 more
core  

[Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae]. [PDF]

Nervenarzt
Mengel KE, Mendoza G, Mani L, Deckert J, Arash-Kaps L.   +4 more
europepmc   +1 more source

Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors. [PDF]

Ann Indian Acad Neurol, 2022
Sheth J, Mohapatra I, Patra G, Bhavsar R, Patel C, Shah S, Nair A.   +6 more
europepmc   +1 more source