Literature DB >> 5806782

Familial ataxia, hypogonadism and retinal degeneration.

B J Boucher, F B Gibberd.   

Abstract

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Year:  1969        PMID： 5806782

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN： 0001-6314            Impact factor:   3.209


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  21 in total

Review 1.  Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.

Authors:  P Rump; B C Hamel; A J Pinckers; P A van Dop
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Authors:  A Deik; B Johannes; J C Rucker; E Sánchez; S E Brodie; E Deegan; K Landy; Y Kajiwara; S Scelsa; R Saunders-Pullman; C Paisán-Ruiz
Journal:  J Neurol       Date:  2014-09-30       Impact factor: 4.849

3.  Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Authors:  Kishin Koh; Fumikazu Kobayashi; Michiaki Miwa; Kazumasa Shindo; Eiji Isozaki; Hiroyuki Ishiura; Shoji Tsuji; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2015-01-29       Impact factor: 3.172

Review 4.  Hypogonadism and neurological diseases.

Authors:  Abdulaziz Alsemari
Journal:  Neurol Sci       Date:  2013-01-05       Impact factor: 3.307

5.  Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.

Authors:  J P Fryns; C Van Lingen; K Devriendt; E Legius; P Raus
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

6.  PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Authors:  Matthis Synofzik; Michael A Gonzalez; Charles Marques Lourenco; Marie Coutelier; Tobias B Haack; Adriana Rebelo; Didier Hannequin; Tim M Strom; Holger Prokisch; Christoph Kernstock; Alexandra Durr; Ludger Schöls; Marcos M Lima-Martínez; Amjad Farooq; Rebecca Schüle; Giovanni Stevanin; Wilson Marques; Stephan Züchner
Journal:  Brain       Date:  2013-12-19       Impact factor: 13.501

7.  Familial spastic paraplegia with Kallmann's syndrome.

Authors:  R R Tuck; B P O'Neill; H Gharib; D W Mulder
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-07       Impact factor: 10.154

8.  Multiple pituitary hormone deficiencies in a patient with spinocerebellar ataxia: magnetic resonance imaging and hormonal studies.

Authors:  E Bhatia; R Shukla; R K Gupta; U K Misra
Journal:  J Endocrinol Invest       Date:  1993-09       Impact factor: 4.256

9.  Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency.

Authors:  J Berciano; J A Amado; J Freijanes; M Rebollo; A Vaquero
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-08       Impact factor: 10.154

10.  Ophthalmologic findings of Boucher-Neuhäuser syndrome.

Authors:  Sun Im Yu; Jung Lim Kim; Sul Gee Lee; Hyun Woong Kim; Sang Jin Kim
Journal:  Korean J Ophthalmol       Date:  2008-12
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