Literature DB >> 14409555

Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.

K KJELLIN.   

Abstract

Entities:  

Keywords:  MENTAL DEFICIENCY/genetics; MUSCLES/diseases; PARAPLEGIA/genetics; RETINA/pathology

Mesh：

Year:  1959        PMID： 14409555     DOI： 10.1001/archneur.1959.03840020007002

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


× No keyword cloud information.
  10 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

2.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

3.  Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.

Authors:  S A Mirhosseini; L B Holmes; D S Walton
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

4.  Hereditary spastic ataxia with congenital miosis: four cases in one family.

Authors:  D J Dick; P K Newman; P G Cleland
Journal:  Br J Ophthalmol       Date:  1983-02       Impact factor: 4.638

Review 5.  Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Lara Wahlster; Jenny Lu; Susan Byrne; Georg F Hoffmann; Heinz Jungbluth; Mustafa Sahin
Journal:  Brain       Date:  2015-12-29       Impact factor: 13.501

6.  Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia.

Authors:  S Webb; V Patterson; M Hutchinson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-11       Impact factor: 10.154

7.  Strumpell's pure familial spastic paraplegia: case study and review of the literature.

Authors:  G L Holmes; B A Shaywitz
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-10       Impact factor: 10.154

8.  Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

Authors:  A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-10       Impact factor: 10.154

9.  Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

Authors:  Sylvain Hanein; Elodie Martin; Amir Boukhris; Paula Byrne; Cyril Goizet; Abdelmadjid Hamri; Ali Benomar; Alexander Lossos; Paola Denora; José Fernandez; Nizar Elleuch; Sylvie Forlani; Alexandra Durr; Imed Feki; Michael Hutchinson; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2008-04       Impact factor: 11.025

10.  Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

Authors:  Nizar Elleuch; Naima Bouslam; Sylvain Hanein; Alexander Lossos; Abdelmadjid Hamri; Stephan Klebe; Vardiella Meiner; Nezha Birouk; Israela Lerer; Djamel Grid; Delphine Bacq; Meriem Tazir; Diana Zelenika; Zohar Argov; Alexandra Durr; Mohamed Yahyaoui; Ali Benomar; Alexis Brice; Giovanni Stevanin
Journal:  Neurogenetics       Date:  2007-07-28       Impact factor: 3.017
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.