Literature DB >> 34689254

Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms.

Aleksandra Klimkowicz-Mrowiec1, Anna Dziubek2, Małgorzata Sado2, Marek Karpiński2.   

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Year:  2021        PMID： 34689254     DOI： 10.1007/s10072-021-05687-0

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  2 in total

1.  Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  Michael H Parkinson; Ana P Bartmann; Lisa M S Clayton; Suran Nethisinghe; Rolph Pfundt; J Paul Chapple; Mary M Reilly; Hadi Manji; Nicholas J Wood; Fion Bremner; Paola Giunti
Journal:  Brain       Date:  2018-04-01       Impact factor: 13.501

2.  Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings.

Authors:  Asthik Biswas; Mugil Varman; Sangeetha Yoganathan; Patel Khushboo Subhash; Sunithi Mani
Journal:  Neurology       Date:  2018-04-03       Impact factor: 9.910
  2 in total

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