Literature DB >> 35937492

Abnormal DaTscan in GM1-Gangliosidosis Type III Manifesting with Dystonia-Parkinsonism.

Shahedah Koya Kutty1,2, Francesca Magrinelli2, Anna Vera Milner2, Kailash P Bhatia2.   

Abstract

Entities:  

Keywords:  DaTscan; GLB1; lysosomal storage disorder; nigrostriatal degeneration; β‐galactosidase

Year:  2022        PMID： 35937492      PMCID： PMC9346251          DOI： 10.1002/mdc3.13512

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  12 in total

1.  Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Authors:  D Hofer; K Paul; K Fantur; M Beck; A Roubergue; A Vellodi; B J Poorthuis; H Michelakakis; B Plecko; E Paschke
Journal:  Clin Genet       Date:  2010-02-11       Impact factor: 4.438

Review 2.  Neuropathology of late onset gangliosidoses. A review.

Authors:  K Suzuki
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

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

Authors:  Antonio Marangi; Matteo Tagliapietra; Virginia Vicenzi; Isabella Pasquin; Alessandro Salviati
Journal:  Neurology       Date:  2018-07-10       Impact factor: 9.910

Review 4.  Dystonia and parkinsonism in GM1 type 3 gangliosidosis.

Authors:  Emmanuel Roze; Eduard Paschke; Nathalie Lopez; Thomas Eck; Kunihiro Yoshida; Annie Maurel-Ollivier; Diane Doummar; Catherine Caillaud; Damien Galanaud; Thierry Billette de Villemeur; Marie Vidailhet; Anne Roubergue
Journal:  Mov Disord       Date:  2005-10       Impact factor: 10.338

Review 5.  Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

Authors:  Uday Muthane; Yasha Chickabasaviah; Chris Kaneski; Susurla K Shankar; Gayathri Narayanappa; Rita Christopher; Srikanth Subbamma Govindappa
Journal:  Mov Disord       Date:  2004-11       Impact factor: 10.338

6.  Adult GM1 gangliosidosis: immunohistochemical and ultrastructural findings in an autopsy case.

Authors:  K Yoshida; S Ikeda; K Kawaguchi; N Yanagisawa
Journal:  Neurology       Date:  1994-12       Impact factor: 9.910

Review 7.  MRI of neurodegeneration with brain iron accumulation.

Authors:  Stéphane Lehéricy; Emmanuel Roze; Cyril Goizet; Fanny Mochel
Journal:  Curr Opin Neurol       Date:  2020-08       Impact factor: 5.710

Review 8.  Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis.

Authors:  Konrad Sandhoff; Klaus Harzer
Journal:  J Neurosci       Date:  2013-06-19       Impact factor: 6.167

9.  GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Authors:  Anna Caciotti; Scott C Garman; Yadilette Rivera-Colón; Elena Procopio; Serena Catarzi; Lorenzo Ferri; Carmen Guido; Paola Martelli; Rossella Parini; Daniela Antuzzi; Roberta Battini; Michela Sibilio; Alessandro Simonati; Elena Fontana; Alessandro Salviati; Gulcin Akinci; Cristina Cereda; Carlo Dionisi-Vici; Francesca Deodato; Adele d'Amico; Alessandra d'Azzo; Enrico Bertini; Mirella Filocamo; Maurizio Scarpa; Maja di Rocco; Cynthia J Tifft; Federica Ciani; Serena Gasperini; Elisabetta Pasquini; Renzo Guerrini; Maria Alice Donati; Amelia Morrone
Journal:  Biochim Biophys Acta       Date:  2011-04-07

Review 10.  GM1 Gangliosidosis-A Mini-Review.

Authors:  Elena-Raluca Nicoli; Ida Annunziata; Alessandra d'Azzo; Frances M Platt; Cynthia J Tifft; Karolina M Stepien
Journal:  Front Genet       Date:  2021-09-03       Impact factor: 4.599
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