Literature DB >> 32775516

A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene.

Prashanth L Kukkle1,2, Thenral S Geetha3, Anita Mahadevan4, Vedam L Ramprasad3.   

Abstract

Entities:  

Keywords:  ataxia, CJD, familial, vocal cord palsy, autosomal dominant

Year:  2020        PMID： 32775516      PMCID： PMC7396861          DOI： 10.1002/mdc3.12999

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


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  11 in total

1.  Fatal familial insomnia: clinical features and molecular genetics.

Authors:  P Cortelli; P Gambetti; P Montagna; E Lugaresi
Journal:  J Sleep Res       Date:  1999-06       Impact factor: 3.981

2.  Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein.

Authors:  R B Petersen; P Parchi; S L Richardson; C B Urig; P Gambetti
Journal:  J Biol Chem       Date:  1996-05-24       Impact factor: 5.157

Review 3.  Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.

Authors:  P Gambetti; P Parchi; R B Petersen; S G Chen; E Lugaresi
Journal:  Brain Pathol       Date:  1995-01       Impact factor: 6.508

4.  Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

Authors:  L G Goldfarb; R B Petersen; M Tabaton; P Brown; A C LeBlanc; P Montagna; P Cortelli; J Julien; C Vital; W W Pendelbury
Journal:  Science       Date:  1992-10-30       Impact factor: 47.728

Review 5.  Sporadic and familial CJD: classification and characterisation.

Authors:  Pierluigi Gambetti; Qingzhong Kong; Wenquan Zou; Piero Parchi; Shu G Chen
Journal:  Br Med Bull       Date:  2003       Impact factor: 4.291

6.  Multifocal hits for propagation of prion protein in sporadic Creutzfeldt-Jakob disease.

Authors:  Kensaku Kasuga; Ryoko Takeuchi; Toshiaki Takahashi; Nae Matsubara; Ryoko Koike; Akio Yokoseki; Masatoyo Nishizawa
Journal:  Neurol Neuroimmunol Neuroinflamm       Date:  2014-12-23

7.  Polymorphism at 129 dictates metastable conformations of the human prion protein N-terminal β-sheet.

Authors:  S Alexis Paz; Eric Vanden-Eijnden; Cameron F Abrams
Journal:  Chem Sci       Date:  2016-09-30       Impact factor: 9.825

8.  A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.

Authors:  Thenral S Geetha; Lokesh Lingappa; Abhishek Ravindra Jain; Hridya Govindan; Nitin Mandloi; Sakthivel Murugan; Ravi Gupta; Ramprasad Vedam
Journal:  Mol Genet Genomic Med       Date:  2017-12-22       Impact factor: 2.183

9.  Familial Creutzfeldt-Jakob Disease: The First Reported Kindred from South-East Asia.

Authors:  Nishit Sawal; Kamalesh Chakravarty; Inder Puri; Vinay Goyal; Ajay Garg; Qi Shi; Wei Zhou; Dong Xiaoping; Garima Shukla
Journal:  Ann Indian Acad Neurol       Date:  2019 Apr-Jun       Impact factor: 1.383

10.  Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease.

Authors:  I Zerr; K Kallenberg; D M Summers; C Romero; A Taratuto; U Heinemann; M Breithaupt; D Varges; B Meissner; A Ladogana; M Schuur; S Haik; S J Collins; Gerard H Jansen; G B Stokin; J Pimentel; E Hewer; D Collie; P Smith; H Roberts; J P Brandel; C van Duijn; M Pocchiari; C Begue; P Cras; R G Will; P Sanchez-Juan
Journal:  Brain       Date:  2009-09-22       Impact factor: 13.501
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