Works matching Tay-Sachs disease

Results: 521

"Cherry red spot" in a patient with Tay-Sachs disease: case report.

Published in:

2009

By:

de Aragão, Ricardo Evangelista Marrocos;
Ramos, Régia Maria Gondim;
Pereira, Felipe Bezerra Alves;
Bezerra, Andreya Ferreira Rodrigues;
Fernandes, Daniel Nogueira

Publication type:

Case Study

Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.

Published in:

Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10

By:

Aslanger, Ayça Dilruba;
Güleç, Çağrı;
Kalaycı, Tuğba;
Şengenç, Esma;
Avcı, Şahin;
Altunoğlu, Umut;
Karaman, Volkan;
Toksoy, Güven;
Karaca, Meryem;
İşcan, Akın;
Gökçay, Gülden;
Yeşil, Gözde;
Uyguner, Oya

Publication type:

Article

Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.

Published in:

Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10

By:

Aslanger, Ayça Dilruba;
Güleç, Çağrı;
Kalaycı, Tuğba;
Şengenç, Esma;
Avcı, Şahin;
Altunoğlu, Umut;
Karaman, Volkan;
Toksoy, Güven;
Karaca, Meryem;
İşcan, Akın;
Gökçay, Gülden;
Yeşil, Gözde;
Uyguner, Oya

Publication type:

Article

Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.

Published in:

Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 289, doi. 10.1002/mdc3.12194

By:

Grim, Kristina K.;
Phillips, Gregory D.;
Renner, David R.

Publication type:

Article

GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease.

Published in:

2020

By:

Demir, Seçil Akyıldız;
Timur, Zehra Kevser;
Ateş, Nurselin;
Martínez, Luis Alarcón;
Seyrantepe, Volkan

Publication type:

journal article

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 3, p. 55

By:

KARIMZADEH, Parvaneh;
JAFARI, Narjes;
NEJAD BIGLARI, Habibeh;
JABBEH DARI, Sayena;
AHMAD ABADI, Farzad;
ALAEE, Mohammad-Reza;
NEMATI, Hamid;
SAKET, Sasan;
TONEKABONI, Seyed Hasan;
TAGHDIRI, Mohammad-Mahdi;
GHOFRANI, Mohammad

Publication type:

Article

Proton MR spectroscopy in three children with Tay-Sachs disease.

Published in:

2005

By:

Aydin, Kubilay;
Bakir, Baris;
Tatli, Burak;
Terzibasioglu, Ege;
Ozmen, Meral

Publication type:

journal article

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.

Published in:

2018

By:

Vu, Mylinh;
Li, Rong;
Baskfield, Amanda;
Lu, Billy;
Farkhondeh, Atena;
Gorshkov, Kirill;
Motabar, Omid;
Beers, Jeanette;
Chen, Guokai;
Zou, Jizhong;
Espejo-Mojica, Angela J.;
Rodríguez-López, Alexander;
Alméciga-Díaz, Carlos J.;
Barrera, Luis A.;
Jiang, Xuntian;
Ory, Daniel S.;
Marugan, Juan J.;
Zheng, Wei;
Rodríguez-López, Alexander;
Alméciga-Díaz, Carlos J

Publication type:

journal article

Tay-Sachs disease: current perspectives from Australia.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 19, doi. 10.2147/TACG.S49628

By:

Lew, Raelia M.;
Burnett, Leslie;
Proos, Anné L.;
Delatycki, Martin B.

Publication type:

Article

Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 35, doi. 10.1007/s10048-003-0166-8

By:

Karpati, Mazal;
Gazit, Ephraim;
Goldman, Boleslaw;
Frisch, Amos;
Colombo, Roberto;
Peleg, Leah

Publication type:

Article

The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015.

Published in:

Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1173, doi. 10.1002/jgc4.1284

By:

Sillon, Guillaume;
Allard, Pierre;
Drury, Stella;
Rivière, Jean‐Baptiste;
Bie, Isabelle

Publication type:

Article

Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease.

Published in:

Journal of Molecular Medicine, 2018, v. 96, n. 12, p. 1359, doi. 10.1007/s00109-018-1703-0

By:

Chen, Yuehong;
Jian, Jinlong;
Hettinghouse, Aubryanna;
Zhao, Xueheng;
Setchell, Kenneth D. R.;
Sun, Ying;
Liu, Chuan-ju

Publication type:

Article

Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report.

Published in:

Acta Medica Marisiensis, 2017, v. 63, n. 4, p. 199, doi. 10.1515/amma-2017-0034

By:

Maier, Smaranda;
Bajko, Zoltan;
Moţăţăianu, Anca;
Stoian, Adina;
Şchiopu, Bianca;
Bălaşa, Rodica

Publication type:

Article

Co‐occurrence of central tegmental tract hyperintensity and Tay–Sachs disease: A case report.

Published in:

2023

By:

Balsak, Serdar;
Uyanık, Bulent;
Atasoy, Bahar;
Yozgat, Can Yilmaz;
Yurtsever, Ismail;
Alkan, Alpay

Publication type:

Case Study

Early juvenile Tay–Sachs disease with atypical symptoms.

Published in:

2019

By:

Sakurai, Mihoko;
Azuma, Junji;
Yamamoto, Takehisa;
Hamada, Yusuke;
Sakai, Norio

Publication type:

Case Study

Simultaneous preimplantation genetic diagnosis for Tay--Sachs and Gaucher disease.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2007, v. 15, n. 1, p. 83, doi. 10.1016/S1472-6483(10)60696-7

By:

Altarescu, Gheona;
Brooks, Barry;
Margalioth, Ehud;
Geva, Talia Eldar;
Levy-Lahad, Ephrat;
Renbaum, Paul

Publication type:

Article

Clinical Manifestations of Psychiatric Patients Who Are Carriers of Tay-Sachs Disease.

Published in:

Neuropsychobiology, 2000, v. 41, n. 3, p. 127, doi. 10.1159/000026644

By:

Zelnik;
Khazanov;
Sheinkman;
Karpati;
Peleg

Publication type:

Article

Assessing the Potential Success of Cystic Fibrosis Carrier Screening: Lessons Learned from Tay-Sachs Disease and β-Thalassemia.

Published in:

Public Health Genomics, 2010, v. 13, n. 5, p. 310, doi. 10.1159/000253122

By:

Laberge, A.-M.;
Watts, C.;
Porter, K.;
Burke, W.

Publication type:

Article

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.756

By:

Riboldi, Giulietta Maria;
Lau, Heather

Publication type:

Article

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

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.750

By:

Lefter, Stela;
Ryan, Aisling M.

Publication type:

Article

Novel mutations, including the second most common in Japan, in the β-hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

Published in:

Journal of Human Genetics, 1999, v. 44, n. 2, p. 91, doi. 10.1007/s100380050116

By:

Tanaka, A.;
Fujimaru, Mutsuko;
Choeh, Kyuchul;
Isshiki, Gen

Publication type:

Article

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S192, doi. 10.1007/PL00014401

By:

Kaback, Michael M.

Publication type:

Article

Screening for Tay-Sachs disease.

Published in:: American Family Physician, 1996, v. 53, n. 3, p. 991
Publication type:: Article

Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.

Published in:

Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.726

By:

RIBOLDI, GIULIETTA MARIA;
LAU, HEATHER

Publication type:

Article

Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India.

Published in:

PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039122

By:

Mistri, Mehul;
Tamhankar, Parag M .;
Sheth, Frenny;
Sanghavi, Daksha;
Kondurkar, Pratima;
Patil, Swapnil;
Idicula-Thomas, Susan;
Gupta, Sarita;
Sheth, Jayesh

Publication type:

Article

Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029074

By:

Kodama, Takashi;
Togawa, Tadayasu;
Tsukimura, Takahiro;
Kawashima, Ikuo;
Matsuoka, Kazuhiko;
Kitakaze, Keisuke;
Tsuji, Daisuke;
Itoh, Kohji;
Ishida, Yo-ichi;
Suzuki, Minoru;
Suzuki, Toshihiro;
Sakuraba, Hitoshi

Publication type:

Article

The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay-Sachs Disease.

Published in:

Canadian Journal of Sociology, 2006, v. 31, n. 3, p. 291, doi. 10.2307/20058712

By:

Reuter, Shelley Z.

Publication type:

Article

Diagnosis and Molecular Characterization of Non-classic Forms of Tay-Sachs Disease in Brazil.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 6, p. 540, doi. 10.1177/08830738060210061101

By:

Rozenberg, R.;
Kok, F.;
Burin, M. G.;
Sá Miranda, M. C.;
Vasques, C.;
Henriques-Souza, A. M. M.;
Giugliani, R.;
Vainzof, Mariz;
Pereira, L. V.

Publication type:

Article

The Tay-Sachs disease screening program in the U.S. as a model for the control of genetic disease...

Published in:

Health Matrix: Journal of Law-Medicine, 1997, v. 7, n. 1, p. 125

By:

Edelson, Paul J.

Publication type:

Article

Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.

Published in:

Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632

By:

Lew, Raelia M;
Burnett, Leslie;
Proos, Anné L;
Barlow‐Stewart, Kristine;
Delatycki, Martin B;
Bankier, Agnes;
Aizenberg, Harry;
Field, Michael J;
Berman, Yemima;
Fleischer, Ronald;
Fietz, Michael

Publication type:

Article

A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand.

Published in:

Neurology Asia, 2016, v. 21, n. 3, p. 281

By:

Boonyawat, Boonchai;
Phetthong, Tim;
Nabangchang, Charcrin;
Suwanpakdee, Piradee

Publication type:

Article

[sup 31]Phosphorus Magnetic Resonance Spectroscopy in Late-Onset Tay-Sachs Disease.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 5, p. 377, doi. 10.1177/088307380101600514

By:

Felderhoff-Mueser, Ursula;
Sperner, Jurgen;
Konstanzcak, Paul;
Navon, Ruth;
Weschke, Bernhard

Publication type:

Article

The politics of 'wrongful life' itself: discursive (mal)practices and Tay-Sachs disease.

Published in:

Economy & Society, 2007, v. 36, n. 2, p. 236, doi. 10.1080/03085140701254290

By:

Reuter, Shelley Z.

Publication type:

Article

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 9, p. 682, doi. 10.1038/jhg.2011.78

By:

Haghighi, Alireza;
Rezazadeh, Jamileh;
Shadmehri, Azam Ahmadi;
Haghighi, Amirreza;
Kornreich, Ruth;
Desnick, Robert J

Publication type:

Article

Choroidal Coloboma in a Case of Tay-Sachs Disease.

Published in:

2014

By:

Ahmed, Nasreen Raees;
Tripathy, Koushik;
Kumar, Vivek;
Gogia, Varun

Publication type:

Case Study

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200176

By:

Peleg, L;
Frisch, A;
Goldman, B;
Karpaty, M;
Narinsky, R;
Bronstein, S;
Frydman, M

Publication type:

Article

Characterization of Inducible Models of Tay-Sachs and Related Disease.

Published in:

PLoS Genetics, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.pgen.1002943

By:

Sargeant, Timothy J.;
Drage, Deborah J.;
Wang, Susan;
Apostolakis, Apostolos A.;
Cox, Timothy M.;
Cachón-González, M. Begoña

Publication type:

Article

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

Published in:

2015

By:

Stendel, Claudia;
Gallenmüller, Constanze;
Peters, Katrin;
Bürger, Friederike;
Gramer, Gwendolyn;
Biskup, Saskia;
Klopstock, Thomas

Publication type:

Letter

Zygosity Diagnosis: When Physicians and DNA Disagree/Twin Research: Sex-Discordant Chimeric Twins; Unrelated Bone Marrow Transplantation in Infant Twins With Congenital Amegakaryotic Thrombocytopenia; Twin Study of Attractiveness to Mosquitoes; Twins Coping With Crisis/Media Highlights: The Less Favored Twin; Paternity Issues; Twins With Late-Onset Tay-Sachs Disease; Triplets at MIT.

Published in:

2015

By:

Segal, Nancy L.

Publication type:

journal article

Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 5, p. 831, doi. 10.1093/hmg/8.5.831

By:

Guidotti, J. E.;
Mignon, A.;
Haase, G.;
Caillaud, C.;
McDonell, N.;
Kahn, A.;
Poenaru, L.

Publication type:

Article

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era.

Published in:

JAMA: Journal of the American Medical Association, 1993, v. 270, n. 19, p. 2307, doi. 10.1001/jama.1993.03510190063028

By:

Kaback, Michael;
Lim-Steele, Joyce

Publication type:

Article

A novel mutation in the HEXA gene specific to Tay–Sachs disease carriers of Jewish Iraqi origin.

Published in:

Clinical Genetics, 2000, v. 57, n. 5, p. 398, doi. 10.1034/j.1399-0004.2000.570512.x

By:

Karpati, M.;
Peleg, L.;
Gazit, E.;
Akstein, E.;
Goldman, B.

Publication type:

Article

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.

Published in:

Medical Journal of Australia, 2012, v. 197, n. 11/12, p. 652, doi. 10.5694/mja12.11010

By:

Lew, Raelia M.;
Proos, Anne L.;
Burnett, Leslie;
Delatycki, Martin;
Bankier, Agnes;
Fletz, Micheal J.

Publication type:

Article

Production of recombinant β-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2008, v. 8, n. 1, p. 17
Publication type:: Article

Tay Sachs disease carrier testing in the UK Jewish population.

Published in:

British Journal of Midwifery, 2010, v. 18, n. 4, p. 220, doi. 10.12968/bjom.2010.18.4.47371

By:

Alberg, Corinna;
Levene, Sara;
Burton, Hilary

Publication type:

Article

Tay-Sachs Disease, Wrongful Life, and Preventative Malpractice.

Published in:

American Journal of Public Health, 1977, v. 67, n. 6, p. 568, doi. 10.2105/AJPH.67.6.568

By:

Curran, William J.

Publication type:

Article

CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease.

Published in:

2016

By:

Mittal, Puneet;
Gupta, Ranjana;
Garg, Punita;
Mittal, Amit;
Kaur, Harkirat;
Gupta, Sharad

Publication type:

journal article

226. Effective Gene Therapy in an Authentic Mouse Model of Tay-Sachs Related Diseases.

Published in:

Molecular Therapy, 2006, v. 13, p. S86, doi. 10.1016/j.ymthe.2006.08.251

By:

Cachon-Gonzlez, Begona;
Wang, Susan;
Ziegler, Robin;
Cheng, Seng H.;
Cox, Timothy M.

Publication type:

Article

Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

Published in:

Human Genetics, 2004, v. 114, n. 4, p. 366, doi. 10.1007/s00439-003-1072-8

By:

Amos Frisch;
Roberto Colombo;
Elena Michaelovsky;
Mazal Karpati;
Boleslaw Goldman;
Leah Peleg

Publication type:

Article

Understanding Tay-Sachs Disease.

Published in:

Clinical Pediatrics, 1966, v. 5, n. 11, p. 653, doi. 10.1177/000992286600501104

By:

Volk, Bruno W.

Publication type:

Article