Literature DB >> 25916337

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

E Pretegiani1, F Rosini, P Federighi, A Cerase, M T Dotti, A Rufa.   

Abstract

Entities:  

Keywords:  GM2-gangliosidosis; Sandhoff disease; ataxia; palatal tremor; pendular nystagmus

Year:  2015        PMID： 25916337     DOI： 10.1111/ene.12661

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  7 in total

Review 1.  Acquired pendular nystagmus.

Authors:  Sarah Kang; Aasef G Shaikh
Journal:  J Neurol Sci       Date:  2017-01-10       Impact factor: 3.181

2.  Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.

Authors:  Bryn D Webb; Anthony Evans; Thomas P Naidich; Lynne M Bird; Sumit Parikh; Meilin Fernandez Garcia; Lindsay B Henderson; Francisca Millan; Yue Si; Kristen J Brennand; Peter Hung; Janet C Rucker; Patricia G Wheeler; Eric E Schadt
Journal:  Hum Mutat       Date:  2021-04-15       Impact factor: 4.700

Review 3.  Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor.

Authors:  Caroline Tilikete; Virginie Desestret
Journal:  Front Neurol       Date:  2017-06-29       Impact factor: 4.003

4.  A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Authors:  Malco Rossi; Martin Cesarini; Emilia M Gatto; Angel Cammarota; Marcelo Merello
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2018-05-17

5.  Oculopalatal tremor following sequential medullary infarcts that did not cause hypertrophic olivary degeneration.

Authors:  Jorge C Kattah; Rodger J Elble; Jeffrey De Santo; Aasef G Shaikh
Journal:  Cerebellum Ataxias       Date:  2020-02-14

6.  Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

Authors:  Olivia E Rowe; D Rangaprakash; Akila Weerasekera; Neha Godbole; Elizabeth Haxton; Peter F James; Christopher D Stephen; Robert L Barry; Florian S Eichler; Eva-Maria Ratai
Journal:  Mol Genet Metab       Date:  2021-06-24       Impact factor: 4.204

7.  Palatal Tremor - Pathophysiology, Clinical Features, Investigations, Management and Future Challenges.

Authors:  Shakya Bhattacharjee
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-10-08
  7 in total

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