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Items: 1 to 20 of 367

1.

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Bouhouche A, Tibar H, Kriouale Y, Jiddane M, Smaili I, Bouslam N, Benomar A, Yahyaoui M, El Fahime E.

Case Rep Genet. 2018 Nov 15;2018:8635698. doi: 10.1155/2018/8635698. eCollection 2018.

2.

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.

Zubaida B, Almas Hashmi M, Arshad Cheema H, Naeem M.

J Genet. 2018 Dec;97(5):1445-1449.

3.

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.

Przybilla MJ, Ou L, Tăbăran AF, Jiang X, Sidhu R, Kell PJ, Ory DS, O'Sullivan MG, Whitley CB.

Mol Genet Metab. 2018 Nov 22. pii: S1096-7192(18)30550-X. doi: 10.1016/j.ymgme.2018.11.002. [Epub ahead of print]

4.

Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis.

Vasei M, Abolhasani M, Safavi M.

Indian J Hematol Blood Transfus. 2018 Oct;34(4):749-750. doi: 10.1007/s12288-018-0984-3. Epub 2018 Jul 7. No abstract available.

PMID:
30369755
5.

Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis.

Ranjan S, Patra PK.

J Pediatr Neurosci. 2018 Jul-Sep;13(3):346-348. doi: 10.4103/JPN.JPN_180_17.

6.

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Feng Y, Huang Y, Zhao X, Sheng H, Feng Y, Zhang W, Liu L.

Metab Brain Dis. 2018 Dec;33(6):2051-2057. doi: 10.1007/s11011-018-0315-2. Epub 2018 Sep 28.

PMID:
30267299
7.

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.

Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR.

Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5.

8.

Teaching NeuroImages: Brain MRI and DaT-SPECT imaging in adult GM1 gangliosidosis.

Marangi A, Tagliapietra M, Vicenzi V, Pasquin I, Salviati A.

Neurology. 2018 Jul 10;91(2):e187-e188. doi: 10.1212/WNL.0000000000005775. No abstract available.

PMID:
29987186
9.

Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis.

Kamate M.

Ann Indian Acad Neurol. 2018 Jan-Mar;21(1):82-83. doi: 10.4103/aian.AIAN_343_17. No abstract available.

10.

Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle.

Pillai SH, Sundaram S, Zafer SM, Rajan R.

Neurol India. 2018 Mar-Apr;66(Supplement):S149-S150. doi: 10.4103/0028-3886.226465. No abstract available.

11.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH.

Brain Dev. 2018 May;40(5):383-390. doi: 10.1016/j.braindev.2018.01.009. Epub 2018 Feb 10.

PMID:
29439846
12.

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Myers KA, Bennett MF, Chow CW, Carden SM, Mandelstam SA, Bahlo M, Scheffer IE.

Am J Med Genet A. 2018 Jan;176(1):230-234. doi: 10.1002/ajmg.a.38549. Epub 2017 Nov 21.

PMID:
29160035
13.

A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.

Schalli M, Weber P, Tysoe C, Pabst BM, Thonhofer M, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Bioorg Med Chem Lett. 2017 Aug 1;27(15):3431-3435. doi: 10.1016/j.bmcl.2017.05.086. Epub 2017 May 30.

PMID:
28600215
14.

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M.

Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3.

PMID:
28577204
15.

N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.

Schalli M, Tysoe C, Fischer R, Pabst BM, Thonhofer M, Paschke E, Rappitsch T, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2017 Apr 18;443-444:15-22. doi: 10.1016/j.carres.2017.03.009. Epub 2017 Mar 11.

PMID:
28319682
16.

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.

Gray-Edwards HL, Regier DS, Shirley JL, Randle AN, Salibi N, Thomas SE, Latour YL, Johnston J, Golas G, Maguire AS, Taylor AR, Sorjonen DC, McCurdy VJ, Christopherson PW, Bradbury AM, Beyers RJ, Johnson AK, Brunson BL, Cox NR, Baker HJ, Denney TS, Sena-Esteves M, Tifft CJ, Martin DR.

Mol Ther. 2017 Apr 5;25(4):892-903. doi: 10.1016/j.ymthe.2017.01.009. Epub 2017 Feb 22.

17.

Peripheral blood findings in GM1 gangliosidosis.

Lynch DT, Czuchlewski DR.

Blood. 2016 Apr 28;127(17):2161. doi: 10.1182/blood-2016-02-699215. No abstract available.

18.

Mongolian Spots in GM1 Gangliosidosis.

Kumar Bhardwaj N, Khera D.

Indian Pediatr. 2016 Dec 15;53(12):1133. No abstract available.

19.

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

Front S, Biela-Banaś A, Burda P, Ballhausen D, Higaki K, Caciotti A, Morrone A, Charollais-Thoenig J, Gallienne E, Demotz S, Martin OR.

Eur J Med Chem. 2017 Jan 27;126:160-170. doi: 10.1016/j.ejmech.2016.09.095. Epub 2016 Sep 29.

PMID:
27750150
20.

Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C.

Thonhofer M, Weber P, Gonzalez Santana A, Tysoe C, Fischer R, Pabst BM, Paschke E, Schalli M, Stütz AE, Tschernutter M, Windischhofer W, Withers SG.

Carbohydr Res. 2016 Jun 24;429:71-80. doi: 10.1016/j.carres.2016.03.020. Epub 2016 Mar 31.

PMID:
27063389

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