Literature DB >> 27025852

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia.

Viorica Chelban1,2, David S Lynch3, Henry Houlden3, Nick Wood3.   

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Year:  2016        PMID： 27025852     DOI： 10.1007/s00415-016-8103-6

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


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  4 in total

1.  Clinical problem-solving. Occam's razor versus Saint's Triad.

Authors:  Anthony A Hilliard; Steven E Weinberger; Lawrence M Tierney; David E Midthun; Sanjay Saint
Journal:  N Engl J Med       Date:  2004-02-05       Impact factor: 91.245

Review 2.  National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987.

Authors: 
Journal:  Neurofibromatosis       Date:  1988

Review 3.  Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Authors:  Joanna M Solowska; Peter W Baas
Journal:  Brain       Date:  2015-06-20       Impact factor: 13.501

4.  Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Authors:  Gerald Pfeffer; Gráinne S Gorman; Helen Griffin; Marzena Kurzawa-Akanbi; Emma L Blakely; Ian Wilson; Kamil Sitarz; David Moore; Julie L Murphy; Charlotte L Alston; Angela Pyle; Jon Coxhead; Brendan Payne; George H Gorrie; Cheryl Longman; Marios Hadjivassiliou; John McConville; David Dick; Ibrahim Imam; David Hilton; Fiona Norwood; Mark R Baker; Stephan R Jaiser; Patrick Yu-Wai-Man; Michael Farrell; Allan McCarthy; Timothy Lynch; Robert McFarland; Andrew M Schaefer; Douglass M Turnbull; Rita Horvath; Robert W Taylor; Patrick F Chinnery
Journal:  Brain       Date:  2014-04-10       Impact factor: 13.501
  4 in total
  2 in total

1.  Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.

Authors:  Sanjiban Chakrabarty; Nimish Vijayakumar; Kurupath Radhakrishnan; Kapaettu Satyamoorthy
Journal:  J Neurol       Date:  2016-08-20       Impact factor: 4.849

2.  Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Authors:  Viorica Chelban; Arianna Tucci; David S Lynch; James M Polke; Liana Santos; Hallgeir Jonvik; Stanislav Groppa; Nicholas W Wood; Henry Houlden
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-06-01       Impact factor: 10.154
  2 in total

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