Cargando…

Late-Onset Tay-Sachs Disease - expanding the clinical phenotype

Detalles Bibliográficos
Autores principales:	Lefter, Stela, Ryan, Aisling M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Ubiquity Press 2023
Materias:	Response Letters: Type 1
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896992/ https://www.ncbi.nlm.nih.gov/pubmed/36789172 http://dx.doi.org/10.5334/tohm.750

Ejemplares similares

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease
por: Riboldi, Giulietta Maria, et al.
Publicado: (2023)

Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay–Sachs Disease
por: Kaur, Jasmine, et al.
Publicado: (2022)

Clinical Spectrum of Drug-Induced Movement Disorders: A Study of 97 Patients
por: Gupta, Harsh V., et al.
Publicado: (2020)

Therapeutic Strategies For Tay-Sachs Disease
por: Picache, Jaqueline A., et al.
Publicado: (2022)

Enfermedad de Tay Sachs
por: Cibrián Cruz, José Alberto
Publicado: (1996)

Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
por: Sheth, Jayesh, et al.
Publicado: (2014)

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases
por: Lyn, Nicole, et al.
Publicado: (2020)

Severe Scratching in Spinocerebellar Ataxia 17: Another Case
por: Pauly, Martje G., et al.
Publicado: (2020)

New Approaches to Tay-Sachs Disease Therapy
por: Solovyeva, Valeriya V., et al.
Publicado: (2018)

Characterization of Inducible Models of Tay-Sachs and Related Disease
por: Sargeant, Timothy J., et al.
Publicado: (2012)

Choroidal Coloboma in a Case of Tay-Sachs Disease
por: Ahmed, Nasreen Raees, et al.
Publicado: (2014)

Tay-Sachs disease: current perspectives from Australia
por: Lew, Raelia M, et al.
Publicado: (2015)

Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease
por: Riboldi, Giulietta Maria, et al.
Publicado: (2022)

Prenatal diagnosis of Tay-Sachs disease: our institutional experience
por: Sheth, Jayesh, et al.
Publicado: (2014)

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)
por: Davies, Elin Haf, et al.
Publicado: (2020)

sp(2)-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease
por: González-Cuesta, Manuel, et al.
Publicado: (2022)

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study
por: Osher, Etty, et al.
Publicado: (2015)

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
por: Vu, Mylinh, et al.
Publicado: (2018)

Autophagic flux is impaired in the brain tissue of Tay-Sachs disease mouse model
por: Sengul, Tugce, et al.
Publicado: (2023)

Nursing Care Plan for Patients with Tay–Sachs—A Rare Paediatric Disease
por: Cortés-Martín, Jonathan, et al.
Publicado: (2023)

Tay-Sachs' Disease: A Study of the Symptomatology and Pathology of Three Atypical Cases
por: Torrance, Herbert Watt
Publicado: (1922)

Tay-Sachs' Disease: A Study of the Symptomatology and Pathology of Three Atypical Cases
por: Torrance, Herbert Watt
Publicado: (1922)

Tay-Sachs' Disease: A Study of the Symptomatology and Pathology of Three Atypical Cases
por: Torrance, Herbert Watt
Publicado: (1922)

Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors
por: Sheth, Jayesh, et al.
Publicado: (2022)

Knowledge and attitudes toward Tay-Sachs disease among a college student population.
por: Austein, C. F., et al.
Publicado: (1981)

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
por: Yoo, H. W., et al.
Publicado: (1993)

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases
por: Ou, Li, et al.
Publicado: (2020)

Efficient and precise generation of Tay–Sachs disease model in rabbit by prime editing system
por: Qian, Yuqiang, et al.
Publicado: (2021)

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population
por: Udwadia-Hegde, Anaita, et al.
Publicado: (2017)

Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease
por: Kodama, Takashi, et al.
Publicado: (2011)

GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease
por: Demir, Seçil Akyıldız, et al.
Publicado: (2020)

Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India
por: Mistri, Mehul, et al.
Publicado: (2012)

Identification of novel mutations in HEXA gene in children affected with Tay-Sachs disease from India
por: Mistri, Mehul, et al.
Publicado: (2014)

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
por: Sheth, Jayesh, et al.
Publicado: (2018)

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy
por: Park, Ji Hong, et al.
Publicado: (2021)

Analysis of Brain Lipids in the Early-Onset Tay–Sachs Disease Mouse Model With the Combined Deficiency of β-Hexosaminidase A and Neuraminidase 3
por: Can, Melike, et al.
Publicado: (2022)

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population
por: Mehta, Nikita, et al.
Publicado: (2016)

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series)
por: KARIMZADEH, Parvaneh, et al.
Publicado: (2014)

Tay–Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum–associated degradation
por: Dersh, Devin, et al.
Publicado: (2016)

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum
por: Ibrahim, Doaa M. A., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_qk47ubb3033uvjkvl8ts1hurrb