Works matching DE "TAY-Sachs disease"

Results: 186

Medical conditions in Ashkenazi schizophrenic pedigrees.

Published in:

1994

By:

Goodman, Ann B.

Publication type:

Journal Article

A group for parents of children with fatal genetic illnesses.

Published in:

1988

By:

Mack, Sally A.;
Berman, Lauren C.

Publication type:

Journal 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

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

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

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

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

Eccrine Sweat Gland Involvement in GM1 Gangliosidosis.

Published in:

Journal of Cutaneous Pathology, 1978, v. 5, n. 1, p. 35, doi. 10.1111/j.1600-0560.1978.tb00935.x

By:

Drut, Ricardo

Publication type:

Article

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

PACIENŢII CU RISC DIN CAUZA FONDULUI ETNIC DE BAZĂ.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2009, v. 58, n. 4, p. 331

By:

Popescu, Valeriu

Publication type:

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

Jewish genetic screening grows despite questions about breadth.

Published in:

Nature Medicine, 2011, v. 17, n. 6, p. 639, doi. 10.1038/nm0611-639

By:

Dolgin, Elie

Publication type:

Article

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

Published in:

Nature Medicine, 2007, v. 13, n. 4, p. 439, doi. 10.1038/nm1548

By:

Lee, Jean-Pyo;
Jeyakumar, Mylvaganam;
Gonzalez, Rodolfo;
Takahashi, Hiroto;
Lee, Pei-Jen;
Baek, Rena C.;
Clark, Dan;
Rose, Heather;
Fu, Gerald;
Clarke, Jonathan;
McKercher, Scott;
Meerloo, Jennifer;
Muller, Franz-Josef;
Park, Kook In;
Butters, Terry D.;
Dwek, Raymond A.;
Schwartz, Philip;
Tong, Gang;
Wenger, David;
Lipton, Stuart A.

Publication type:

Article

TWENTY-FIVE YEARS AGO, MAY 1986.

Published in:: Medicine & Health Rhode Island, 2011, v. 94, n. 5, p. 148
Publication type:: Article

Carrier Testing for Autosomal-Recessive Disorders.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2003, v. 40, n. 4, p. 473, doi. 10.1080/10408360390247832

By:

Vallance, Hilary;
Ford, Jason

Publication type:

Article

Dominick P. Purpura, MD: A Contemporary's Reminiscences.

Published in:

Einstein Journal of Biology & Medicine, 2006, v. 22, n. 2, p. 86

By:

Rapin, Isabelle

Publication type:

Article

Meganeurites and The Man.

Published in:

Einstein Journal of Biology & Medicine, 2006, v. 22, n. 2, p. 74

By:

Walkley, Steven U.

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

GM2 gangliosidosis variant B1 : Neuroradiological findings.

Published in:

Journal of Neurology, 2003, v. 250, n. 1, p. 17, doi. 10.1007/s00415-003-0925-3

By:

Grosso, Salvatore;
Farnetani, Maria Angela;
Berardi, Rosario;
Margollicci, Maria;
Galluzzi, Paolo;
Vivarelli, Rossella;
Morgese, Guido;
Ballestri, Paolo

Publication type:

Article

Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 2, p. 161, doi. 10.1007/PL00007420

By:

Oya, Yasushi;
Proia, Richard L.;
Norflus, Francine;
Tifft, Cynthia J.;
Langaman, Clarita;
Suzuki, Kinuko

Publication type:

Article

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

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

Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots.

Published in:

British Journal of Dermatology, 1981, v. 104, n. 2, p. 195, doi. 10.1111/j.1365-2133.1981.tb00045.x

By:

Weissbluth, Marc;
Esterly, Nancy B.;
Caro, William A.

Publication type:

Article

Population screening for reproductive risk for single gene disorders in Australia: now and the future.

Published in:

2008

By:

Delatycki, Martin B

Publication type:

journal article

Howard v. Lecher.

Published in:: American Journal of Law & Medicine, 1977, v. 3, n. 3, p. 347
Publication type:: Article

Tay--Sachs' Disease (Book).

Published in:

1965

By:

Anderson, Ingram F.

Publication type:

Book Review

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

Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021758

By:

Ashe, Karen M.;
Bangari, Dinesh;
Li, Lingyun;
Cabrera-Salazar, Mario A.;
Bercury, Scott D.;
Nietupski, Jennifer B.;
Cooper, Christopher G. F.;
Aerts, Johannes M. F. G.;
Lee, Edward R.;
Copeland, Diane P.;
Cheng, Seng H.;
Scheule, Ronald K.;
Marshall, John

Publication type:

Article

Testing fate: Tay-Sachs disease and the right to be responsible.

Published in:

2018

By:

Sillo, Christie

Publication type:

Book Review

Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.

Published in:

Muscle & Nerve, 2003, v. 28, n. 1, p. 109, doi. 10.1002/mus.10371

By:

Vivian E. Drory;
Miriam Birnbaum;
Leah Peleg;
Boleslaw Goldman;
Amos D. Korczyn

Publication type:

Article

Correction.

Published in:: 2005
Publication type:: Correction Notice

GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.

Published in:

Veterinary Record: Journal of the British Veterinary Association, 2004, v. 155, n. 23, p. 739

By:

Yamato, O.;
Matsunaga, S.;
Takata, K.;
Uetsuka, K.;
Satoh, H.;
Shoda, T.;
Baba, V.;
Yasoshima, A.;
Kato, K.;
Takahashi, K.;
Yamasaki, M.;
Nakayama, H.;
Doi, K.;
Maede, Y.;
Ogawa, H.

Publication type:

Article

Modulation of chymase-mediated rat serosal mast cell degranulation by trypsin or diisopropyl fluorophosphate.

Published in:

Immunology, 1989, v. 66, n. 3, p. 434

By:

Schick, B.;
Austen, K. F.

Publication type:

Article

Neurometabolic and genetic diseases: a question of screening?

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 967, doi. 10.1111/dmcn.12003

By:

O'HARE, ANNE;
STREET, JESSICA REINE

Publication type:

Article

GM2 gangliosidosis: the prototype of lysosomal storage disorders.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 104, doi. 10.1111/j.1469-8749.2011.04163.x

By:

MAEGAWA, GUSTAVO

Publication type:

Article

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 176, doi. 10.1111/j.1469-8749.2011.04160.x

By:

SMITH, NICHOLAS J;
WINSTONE, ANNE MARIE;
STELLITANO, LESLEY;
COX, TIMOTHY M;
VERITY, CHRISTOPHER M

Publication type:

Article

Oral Presentations.

Published in:: 2010
Publication type:: Abstract

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

Late onset GM2 gangliosidosis presenting with motor neuron disease: An autopsy case.

Published in:

Neuropathology, 2014, v. 34, n. 3, p. 304, doi. 10.1111/neup.12088

By:

Yokoyama, Teruo;
Nakamura, Seigo;
Horiuchi, Emiko;
Ishiyama, Miyako;
Kawashima, Rei;
Nakamura, Kazuo;
Hasegawa, Kazuko;
Yagishita, Saburo

Publication type:

Article

Pediatric Squamous Cell Carcinoma in the Setting of Voriconazole Prophylaxis after Cord Transplant in a Patient with Juvenile-onset Tay-Sachs Disease.

Published in:

2014

By:

Irfan, Mahwish;
Piliang, Melissa;
Vidimos, Allison;
Tamburro, Joan

Publication type:

Abstract

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 611, doi. 10.1038/jhg.2013.68

By:

Yasui, Naoko;
Takaoka, Yutaka;
Nishio, Hisahide;
Nurputra, Dian K;
Sekiguchi, Kenji;
Hamaguchi, Hirotoshi;
Kowa, Hisatomo;
Maeda, Eiichi;
Sugano, Aki;
Miura, Kenji;
Sakaeda, Toshiyuki;
Kanda, Fumio;
Toda, Tatsushi

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

Structural bases of GM1 gangliosidosis and Morquio B disease.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 9, p. 510, doi. 10.1038/jhg.2009.70

By:

Morita, Mizuki;
Saito, Seiji;
Ikeda, Kazuyoshi;
Ohno, Kazuki;
Sugawara, Kanako;
Suzuki, Toshihiro;
Togawa, Tadayasu;
Sakuraba, Hitoshi

Publication type:

Article

Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 571, doi. 10.1007/s10038-003-0080-9

By:

Tanaka, Akemi;
Lan Thi Ngcok Hoang, Akemi;
Nishi, Yasuaki;
Maniwa, Satoshi;
Oka, Makio;
Yamano, Tsunekazu

Publication type:

Article

Structural basis of the GM2 gangliosidosis B variant.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 11, p. 582, doi. 10.1007/s10038-003-0082-7

By:

Matsuzawa, Fumiko;
Aikawa, Sei-ichi;
Sakuraba, Hitoshi;
Hoang Thi Ngoc Lan, Hitoshi;
Tanaka, Akemi;
Ohno, Kousaku;
Sugimoto, Yuko;
Ninomiya, Haruaki;
Doi, Hirofumi

Publication type:

Article

Molecular and structural studies of the GM2 gangliosidosis 0 variant.

Published in:

Journal of Human Genetics, 2002, v. 47, n. 4, p. 176, doi. 10.1007/s100380200020

By:

Sakuraba, H.;
Matsuzawa, F.;
Aikawa, S.;
Doi, H.;
Kotani, M.;
Lin, H.;
Ohno, K.;
Tanaka, A.;
Yamada, H.;
Uyama, E.

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

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