Works matching DE "SANDHOFF disease"

Results: 34

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

Published in:

2018

By:

Tavasoli, Ali Reza;
Parvaneh, Nima;
Ashrafi, Mahmoud Reza;
Rezaei, Zahra;
Zschocke, Johannes;
Rostami, Parastoo

Publication type:

journal article

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty.

Published in:

Annals of Rehabilitation Medicine, 2017, v. 41, n. 5, p. 892, doi. 10.5535/arm.2017.41.5.892

By:

Jae-Gun Moon;
Min-A Shin;
Hannah Pyo;
Seong-Uk Choi;
Hyun-Kyung Kim

Publication type:

Article

Impaired Neural Differentiation of Induced Pluripotent Stem Cells Generated from a Mouse Model of Sandhoff Disease.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055856

By:

Ogawa, Yasuhiro;
Tanaka, Makoto;
Tanabe, Miho;
Suzuki, Toshihiro;
Togawa, Tadayasu;
Fukushige, Tomoko;
Kanekura, Takuro;
Sakuraba, Hitoshi;
Oishi, Kazuhiko

Publication type:

Article

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516

By:

Zampieri, Stefania;
Cattarossi, Silvia;
Ramirez, Ana Maria Oller;
Rosano, Camillo;
Lourenco, Charles Marques;
Passon, Nadia;
Moroni, Isabella;
Uziel, Graziella;
Pettinari, Antonella;
Stanzial, Franco;
Kremer, Raquel Dodelson de;
Azar, Nydia Beatriz;
Hazan, Filiz;
Filocamo, Mirella;
Bembi, Bruno;
Dardis, Andrea

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

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

Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.

Published in:

2017

By:

Antony, Chermaine D.;
Meow-Keong Thong;
Rahmat, Kartini;
Muridan, Roziah

Publication type:

Case Study

Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.

Published in:

Neurology India, 2017, v. 65, p. S98, doi. 10.4103/neuroindia.NI_1121_15

By:

Antony, Chermaine D.;
Meow-Keong Thong;
Rahmat, Kartini;
Muridan, Roziah

Publication type:

Article

Bithalamic T2 hypointensity: A diagnostic clue for Sandhoff's disease.

Published in:

2014

By:

Kumar, Devendra;
Ramanathan, Subramaniyan;
Khanna, Maneesh;
Palaniappan, Yegu

Publication type:

Case Study

Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178978

By:

Ogawa, Yasuhiro;
Kaizu, Katsutoshi;
Yanagi, Yusuke;
Takada, Subaru;
Sakuraba, Hitoshi;
Oishi, Kazuhiko

Publication type:

Article

Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice.

Published in:

Neurochemical Research, 2013, v. 38, n. 4, p. 866, doi. 10.1007/s11064-013-0992-5

By:

Arthur, Julian;
Wilson, Michael;
Larsen, Scott;
Rockwell, Hannah;
Shayman, James;
Seyfried, Thomas

Publication type:

Article

Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis.

Published in:

European Journal of Neurology, 2015, v. 22, n. 6, p. e67, doi. 10.1111/ene.12661

By:

Pretegiani, E.;
Rosini, F.;
Federighi, P.;
Cerase, A.;
Dotti, M. T.;
Rufa, A.

Publication type:

Article

Two‐Year Follow‐Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.

Published in:

Journal of Veterinary Internal Medicine, 2018, v. 32, n. 2, p. 797, doi. 10.1111/jvim.15041

By:

Ito, D.;
Ishikawa, C.;
Jeffery, N. D.;
Ono, K.;
Tsuboi, M.;
Uchida, K.;
Yamato, O.;
Kitagawa, M.

Publication type:

Article

Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the <italic>HEXB G</italic>ene.

Published in:

Journal of Veterinary Internal Medicine, 2018, v. 32, n. 1, p. 340, doi. 10.1111/jvim.14862

By:

Wang, P.;
Henthorn, P. S.;
Lin, G.;
Takedai, T.;
Casal, M.;
Galban, E.

Publication type:

Article

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Published in:

Journal of Veterinary Internal Medicine, 2017, v. 31, n. 5, p. 1520, doi. 10.1111/jvim.14794

By:

Kolicheski, A.;
Johnson, G.S.;
Villani, N.A.;
O'Brien, D.P.;
Mhlanga ‐ Mutangadura, T.;
Wenger, D.A.;
Mikoloski, K.;
Eagleson, J.S.;
Taylor, J.F.;
Schnabel, R.D.;
Katz, M.L.

Publication type:

Article

GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in a Family of Toy Poodles.

Published in:

Journal of Veterinary Internal Medicine, 2010, v. 24, n. 5, p. 1013, doi. 10.1111/j.1939-1676.2010.0564.x

By:

Tamura, S.;
Tamura, Y.;
Uchida, K.;
Nibe, K.;
Nakaichi, M.;
Hossain, M. A.;
Chang, H. S.;
Rahman, M. M.;
Yabuki, A.;
Yamato, O.

Publication type:

Article

Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.

Published in:

Journal of Biochemistry, 2013, v. 153, n. 1, p. 111, doi. 10.1093/jb/mvs131

By:

Yamada, Kenichiro;
Takado, Yuhei;
Kato, Yusuke S.;
Yamada, Yasukazu;
Ishiguro, Hideaki;
Wakamatsu, Nobuaki

Publication type:

Article

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.

Published in:

2016

By:

Beker-Acay, Mehtap;
Elmas, Muhsin;
Koken, Resit;
Unlu, Ebru;
Bukulmez, Aysegul

Publication type:

Case Study

Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.

Published in:

Journal of Clinical Investigation, 2016, v. 126, n. 5, p. 1691, doi. 10.1172/JCI85300

By:

Keisuke Kitakaze;
Yasumichi Mizutani;
Eiji Sugiyama;
Chikako Tasaki;
Daisuke Tsuji;
Nobuo Maita;
Takatsugu Hirokawa;
Daisuke Asanuma;
Mako Kamiya;
Kohei Sato;
Mitsutoshi Setou;
Yasuteru Urano;
Tadayasu Togawa;
Akira Otaka;
Hitoshi Sakuraba;
Kohji Itoh

Publication type:

Article

Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates.

Published in:

Molecular Therapy, 2015, v. 23, n. 3, p. 414, doi. 10.1038/mt.2014.240

By:

Walia, Jagdeep S;
Altaleb, Naderah;
Bello, Alexander;
Kruck, Christa;
LaFave, Matthew C;
Varshney, Gaurav K;
Burgess, Shawn M;
Chowdhury, Biswajit;
Hurlbut, David;
Hemming, Richard;
Kobinger, Gary P;
Triggs-Raine, Barbara

Publication type:

Article

Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy.

Published in:

Molecular Therapy, 2013, v. 21, n. 7, p. 1306, doi. 10.1038/mt.2013.86

By:

Bradbury, Allison M;
Cochran, J Nicholas;
McCurdy, Victoria J;
Johnson, Aime K;
Brunson, Brandon L;
Gray-Edwards, Heather;
Leroy, Stanley G;
Hwang, Misako;
Randle, Ashley N;
Jackson, Laura S;
Morrison, Nancy E;
Baek, Rena C;
Seyfried, Thomas N;
Cheng, Seng H;
Cox, Nancy R;
Baker, Henry J;
Cachón-González, M Begona;
Cox, Timothy M;
Sena-Esteves, Miguel;
Martin, Douglas R

Publication type:

Article

Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice.

Published in:

Journal of Neurochemistry, 2010, v. 113, n. 6, p. 1525, doi. 10.1111/j.1471-4159.2010.06733.x

By:

Denny, Christine A.;
Heinecke, Karie A.;
Kim, Youngho P.;
Baek, Rena C.;
Loh, Katrina S.;
Butters, Terry D.;
Bronson, Roderick T.;
Platt, Frances M.;
Seyfried, Thomas N.

Publication type:

Article

Abnormal production of macrophage inflammatory protein-1α by microglial cell lines derived from neonatal brains of Sandhoff disease model mice.

Published in:

Journal of Neurochemistry, 2009, v. 109, n. 5, p. 1215, doi. 10.1111/j.1471-4159.2009.06041.x

By:

Kawashita, Eri;
Tsuji, Daisuke;
Kawashima, Nagako;
Nakayama, Ken-ichi;
Matsuno, Hiroyuki;
Itoh, Kohji

Publication type:

Article

GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog.

Published in:

2015

By:

Moeko Kohyama;
Akira Yabuki;
Yasuaki Kawasaki;
Hiroaki Kawaguchi;
Naoki Miura;
Yoshiaki Kitano;
Toshinori Onitsuka;
Rahman, Mohammad Mahbubur;
Noriaki Miyoshi;
Osamu Yamato

Publication type:

Case Study

Conditional expression of human βhexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.

Published in:

Journal of Neuroinflammation, 2012, v. 9, n. 1, p. 186, doi. 10.1186/1742-2094-9-186

By:

Kyrkanides, Stephanos;
Brouxhon, Sabine M.;
Tallents, Ross H.;
Miller, Jen-nie H.;
Olschowka, John A.;
O'Banion, M. Kerry

Publication type:

Article

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Published in:

2016

By:

Sheth, Jayesh;
Datar, Chaitanya;
Mistri, Mehul;
Bhavsar, Riddhi;
Sheth, Frenny;
Shah, Krati

Publication type:

journal article

Differential Diagnosis of Bithalamic and Pallidal Hypointensity - a Case of HEXB Mutation.

Published in:

2017

By:

Akçakaya, N. H.;
Özdemir, Ö.;
Gökçay, F. G.;
İşeri, S. A. U.;
Yapıcı, Z.

Publication type:

Case Study

EP02.06: A case of Meckel-Gruber syndrome in a couple with a history of Sandhoff disease.

Published in:

2016

By:

Kesrouani, A.K.

Publication type:

journal article

Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 6, p. 736, doi. 10.1111/ijd.12303

By:

Ashrafi, Mahmoud Reza;
Tavasoli, Alireza;
Shiva, Shadi;
Parvaneh, Nima;
Tamizifar, Banafshe

Publication type:

Article

ATYPICAL PRESENTATION OF LATE-ONSET SANDHOFF DISEASE: A CASE REPORT.

Published in:

Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 11/12, p. 425, doi. 10.18071/isz.74.0425

By:

SALAMON, András;
SZPISJAK, László;
ZÁDORI, Dénes;
LÉNÁRT, István;
MARÓTI, Zoltán;
KALMÁR, Tibor;
BRIERLEY, Charlotte M. H.;
DEEGAN, Patrick B.;
KLIVÉNYI, Péter

Publication type:

Article

Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease.

Published in:

Gene Therapy, 2015, v. 22, n. 2, p. 181, doi. 10.1038/gt.2014.108

By:

McCurdy, V J;
Rockwell, H E;
Arthur, J R;
Bradbury, A M;
Johnson, A K;
Randle, A N;
Brunson, B L;
Hwang, M;
Gray-Edwards, H L;
Morrison, N E;
Johnson, J A;
Baker, H J;
Cox, N R;
Seyfried, T N;
Sena-Esteves, M;
Martin, D R

Publication type:

Article

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.

Published in:

2015

By:

Grunseich, Christopher;
Schindler, Alice;
Chen, Ke-lian;
Bakar, Dara;
Mankodi, Ami;
Traslavina, Ryan;
Ray-Chaudhury, Abhik;
Lehky, Tanya;
Baker, Eva;
Maragakis, Nicholas;
Tifft, Cynthia;
Fischbeck, Kenneth

Publication type:

Letter

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 4, p. 861, doi. 10.1007/s11011-016-9819-9

By:

Zhang, Wen;
Zeng, Huasong;
Huang, Yonglan;
Xie, Ting;
Zheng, Jipeng;
Zhao, Xiaoyuan;
Sheng, Huiying;
Liu, Hongsheng;
Liu, Li

Publication type:

Article