Literature DB >> 33751187

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.

Hans Thomas Hölzer1, Felix Boschann2, Julia B Hennermann3, Gabriele Hahn4, Andreas Hermann5, Maja von der Hagen1, Victoria Tüngler6,7.   

Abstract

Entities:  

Year:  2021        PMID： 33751187     DOI： 10.1007/s00415-021-10492-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

Review 1.  El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis.

Authors:  B R Brooks; R G Miller; M Swash; T L Munsat
Journal:  Amyotroph Lateral Scler Other Motor Neuron Disord       Date:  2000-12

2.  Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.

Authors:  Dianna C Martin; Brian L Mark; Barbara L Triggs-Raine; Marvin R Natowicz
Journal:  Clin Chem       Date:  2007-01-26       Impact factor: 8.327

3.  Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Authors:  Orit Neudorfer; Gregory M Pastores; Bai J Zeng; John Gianutsos; Charles M Zaroff; Edwin H Kolodny
Journal:  Genet Med       Date:  2005-02       Impact factor: 8.822

4.  The cerebellar cognitive affective/Schmahmann syndrome scale.

Authors:  Franziska Hoche; Xavier Guell; Mark G Vangel; Janet C Sherman; Jeremy D Schmahmann
Journal:  Brain       Date:  2018-01-01       Impact factor: 13.501

5.  The cerebellar cognitive affective syndrome.

Authors:  J D Schmahmann; J C Sherman
Journal:  Brain       Date:  1998-04       Impact factor: 13.501

6.  Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Authors:  Helena Jahnová; Helena Poupětová; Jitka Jirečková; Hana Vlášková; Eva Košťálová; Radim Mazanec; Alena Zumrová; Petr Mečíř; Zuzana Mušová; Martin Magner
Journal:  J Neurol       Date:  2019-05-10       Impact factor: 4.849

7.  Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.

Authors:  Christopher D Stephen; David Balkwill; Peter James; Elizabeth Haxton; Kenneth Sassower; Jeremy D Schmahmann; Florian Eichler; Richard Lewis
Journal:  Neurology       Date:  2020-01-21       Impact factor: 9.910

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  The Human Phenotype Ontology in 2021.

Authors:  Sebastian Köhler; Michael Gargano; Nicolas Matentzoglu; Leigh C Carmody; David Lewis-Smith; Nicole A Vasilevsky; Daniel Danis; Ganna Balagura; Gareth Baynam; Amy M Brower; Tiffany J Callahan; Christopher G Chute; Johanna L Est; Peter D Galer; Shiva Ganesan; Matthias Griese; Matthias Haimel; Julia Pazmandi; Marc Hanauer; Nomi L Harris; Michael J Hartnett; Maximilian Hastreiter; Fabian Hauck; Yongqun He; Tim Jeske; Hugh Kearney; Gerhard Kindle; Christoph Klein; Katrin Knoflach; Roland Krause; David Lagorce; Julie A McMurry; Jillian A Miller; Monica C Munoz-Torres; Rebecca L Peters; Christina K Rapp; Ana M Rath; Shahmir A Rind; Avi Z Rosenberg; Michael M Segal; Markus G Seidel; Damian Smedley; Tomer Talmy; Yarlalu Thomas; Samuel A Wiafe; Julie Xian; Zafer Yüksel; Ingo Helbig; Christopher J Mungall; Melissa A Haendel; Peter N Robinson
Journal:  Nucleic Acids Res       Date:  2021-01-08       Impact factor: 16.971

10.  VarFish: comprehensive DNA variant analysis for diagnostics and research.

Authors:  Manuel Holtgrewe; Oliver Stolpe; Mikko Nieminen; Stefan Mundlos; Alexej Knaus; Uwe Kornak; Dominik Seelow; Lara Segebrecht; Malte Spielmann; Björn Fischer-Zirnsak; Felix Boschann; Ute Scholl; Nadja Ehmke; Dieter Beule
Journal:  Nucleic Acids Res       Date:  2020-07-02       Impact factor: 16.971
  10 in total
  1 in total

1.  Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis.

Authors:  Davide Sala; Francesca Ornaghi; Francesco Morena; Chiara Argentati; Manuela Valsecchi; Valeria Alberizzi; Roberta Di Guardo; Alessandra Bolino; Massimo Aureli; Sabata Martino; Angela Gritti
Journal:  Mol Ther Methods Clin Dev       Date:  2022-03-16       Impact factor: 6.698
  1 in total

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