Literature DB >> 5698045

Familial myoclonus, cerebellar ataxia, and deafness. Specific genetically-determined disease.

D L May, H H White.   

Abstract

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Mesh：

Year:  1968        PMID： 5698045     DOI： 10.1001/archneur.1968.00480030109013

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  6 in total

1.  Autosomal dominant cerebellar ataxia with deafness, myoclonus and amyotrophy.

Authors:  T P Melo; J M Ferro
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-12       Impact factor: 10.154

2.  Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.

Authors:  Ji Hoon Park; Bo Ram Yoon; Hye Jin Kim; Phil Hyu Lee; Byung-Ok Choi; Ki Wha Chung
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

3.  Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report.

Authors:  M Baraitser; W Gooddy; A M Halliday; A E Harding; P Rudge; F Scaravilli
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-01       Impact factor: 10.154

4.  Dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome): a condition unrelated to mitochondrial encephalomyopathies.

Authors:  C A Tassinari; R Michelucci; P Genton; J F Pellissier; J Roger
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-02       Impact factor: 10.154

5.  Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome).

Authors:  J Vaamonde; J Muruzabal; T Tuñón; N Perez; J Artieda; M Rodriguez; J A Obeso
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-02       Impact factor: 10.154

6.  Finding commonalities in rare diseases through the undiagnosed diseases network.

Authors:  Josephine Yates; Alba Gutiérrez-Sacristán; Vianney Jouhet; Kimberly LeBlanc; Cecilia Esteves; Thomas N DeSain; Nick Benik; Jason Stedman; Nathan Palmer; Guillaume Mellon; Isaac Kohane; Paul Avillach
Journal:  J Am Med Inform Assoc       Date:  2021-07-30       Impact factor: 4.497
  6 in total

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