Literature DB >> 13729575

Cerebellar hypoplasia in Werdnig-Hoffmann disease.

R M NORMAN.   

Abstract

Entities:  

Keywords:  CEREBELLUM/abnormalities; MUSCULAR ATROPHY/etiology

Mesh：

Year:  1961        PMID： 13729575      PMCID： PMC2012675          DOI： 10.1136/adc.36.185.96

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  3 in total

1.  Cerebellar hypoplasia associated with systemic degeneration in early life.

Authors:  R M NORMAN; H URICH
Journal:  J Neurol Neurosurg Psychiatry       Date:  1958-08       Impact factor: 10.154

2.  [Thalamic lesions in myotonia in infant].

Authors:  J E GRUNER; E BARGETON
Journal:  Rev Neurol (Paris)       Date:  1952       Impact factor: 2.607

3.  [Spinal amyotrophia in children (Werdnig-Hoffmann paralysis) as hereditary degeneration].

Authors:  J RADERMECKER
Journal:  Rev Neurol (Paris)       Date:  1951-01       Impact factor: 2.607
  3 in total
  20 in total

1.  CEREBELLO-THALAMO-SPINAL DEGENERATION IN INFANCY: AN UNUSUAL VARIANT OF WERDNIG-HOFFMANN DISEASE.

Authors:  R M NORMAN; J M KAY
Journal:  Arch Dis Child       Date:  1965-06       Impact factor: 3.791

2.  Sudanophil leucodystrophy in a pachygyric brain.

Authors:  R M NORMAN; A H TINGEY; J C VALENTINE; T A DANBY
Journal:  J Neurol Neurosurg Psychiatry       Date:  1962-11       Impact factor: 10.154

3.  Anterior horn cell disease associated with pontocerebellar hypoplasia in infants.

Authors:  F Goutières; J Aicardi; E Farkas
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-04       Impact factor: 10.154

4.  Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Authors:  Ruth Sheffer; Michal Gur; Rebecca Brooks; Somaya Salah; Muhannad Daana; Nitay Fraenkel; Eli Eisenstein; Malcolm Rabie; Yoram Nevo; Chaim Jalas; Orly Elpeleg; Shimon Edvardson; Tamar Harel
Journal:  Eur J Hum Genet       Date:  2019-04-11       Impact factor: 4.246

5.  Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome).

Authors:  M Haltia; M Somer
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

6.  A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots.

Authors:  K Shishikura; M Hara; Y Sasaki; K Misugi
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088

7.  Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy.

Authors:  G A de León; W D Grover; C A D'Cruz
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

8.  Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?

Authors:  J Towfighi; R S Young; R M Ward
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

9.  Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings.

Authors:  S Albrecht; M C Schneider; J Belmont; D L Armstrong
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

10.  Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Authors:  Sabine Rudnik-Schöneborn; Jan Senderek; Joanna C Jen; Gunnar Houge; Pavel Seeman; Alena Puchmajerová; Luitgard Graul-Neumann; Ulrich Seidel; Rudolf Korinthenberg; Janbernd Kirschner; Jürgen Seeger; Monique M Ryan; Francesco Muntoni; Maja Steinlin; Laszlo Sztriha; Jaume Colomer; Christoph Hübner; Knut Brockmann; Lionel Van Maldergem; Manuel Schiff; Andreas Holzinger; Peter Barth; William Reardon; Michael Yourshaw; Stanley F Nelson; Thomas Eggermann; Klaus Zerres
Journal:  Neurology       Date:  2013-01-02       Impact factor: 9.910
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