Literature DB >> 14792949

Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.

T SJOGREN.   

Abstract

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Year:  1950        PMID： 14792949

Source DB:  PubMed          Journal:  Confin Neurol        ISSN： 0010-5678


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  19 in total

1.  CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS.

Authors:  L CROME; S DUCKETT; A W FRANKLIN
Journal:  Arch Dis Child       Date:  1963-10       Impact factor: 3.791

2.  HEREDITARY CEREBELLAR ATAXIA, MENTAL DEFICIENCY, PYRAMIDAL INVOLVEMENT AND MACULAR PIGMENTATION. A BRIEF REVIEW WITH REPORT OF TWO CASES.

Authors:  S D SINGH; S HUSAIN
Journal:  Indian J Pediatr       Date:  1964-12       Impact factor: 1.967

3.  The widening etiology of mental defect.

Authors:  R GIBSON
Journal:  Can Med Assoc J       Date:  1956-10-15       Impact factor: 8.262

4.  Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.

Authors:  Ibrahim Mahjneh; Anna-Kaisa Anttonen; Mirja Somer; Anders Paetau; Anna-Elina Lehesjoki; Hannu Somer; Bjarne Udd
Journal:  J Neurol       Date:  2005-09-15       Impact factor: 4.849

Review 5.  Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Authors:  J H Begeer; F A Scholte; A J van Essen
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

6.  A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

Authors:  Takehiko Inui; Mai Anzai; Yusuke Takezawa; Wakaba Endo; Yosuke Kakisaka; Atsuo Kikuchi; Akira Onuma; Shigeo Kure; Ichizo Nishino; Chihiro Ohba; Hirotomo Saitsu; Naomichi Matsumoto; Kazuhiro Haginoya
Journal:  J Hum Genet       Date:  2017-02-02       Impact factor: 3.172

7.  Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.

Authors:  Y Ziv; M Frydman; E Lange; N Zelnik; G Rotman; C Julier; N G Jaspers; Y Dagan; D Abeliovicz; H Dar; Z Borochowitz; M Lathrop; R A Gatti; Y Shiloh
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

8.  [Oligophrenia combined with congenital cataracts. Contribution to the metabolic anomaly of Sjögren's syndrome].

Authors:  H J Engels
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1966

9.  Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones.

Authors:  P A Bhaskar; K Jagannathan; K Valmikinathan
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-12       Impact factor: 10.154

Review 10.  MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

Authors:  Anke Reinhold; Ianina Scheer; Rüdiger Lehmann; Luitgard M Neumann; Theodor Michael; Raymonda Varon; Arpad Von Moers
Journal:  AJNR Am J Neuroradiol       Date:  2003-05       Impact factor: 3.825
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