Literature DB >> 5048218

Erythrokeratodermia with ataxia.

J M Giroux, A Barbeau.   

Abstract

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Year:  1972        PMID： 5048218

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


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  10 in total

1.  [Progressive symmetric erythrokeratodermia of Darier-Gottron].

Authors:  H Ott; S Lehmann; P Poblete-Gutiérrez; J Frank
Journal:  Hautarzt       Date:  2004-10       Impact factor: 0.751

Review 2.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Authors:  Frans P M Cremers; Winston Lee; Rob W J Collin; Rando Allikmets
Journal:  Prog Retin Eye Res       Date:  2020-04-09       Impact factor: 21.198

Review 3.  The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.

Authors:  Katherine E Hekman; Christopher M Gomez
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-08-18       Impact factor: 10.154

4.  Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.

Authors:  P S Harper; R Marks; P J Dykes; I D Young
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

5.  The structural basis of fatty acid elongation by the ELOVL elongases.

Authors:  Laiyin Nie; Tomas C Pascoa; Ashley C W Pike; Simon R Bushell; Andrew Quigley; Gian Filippo Ruda; Amy Chu; Victoria Cole; David Speedman; Tiago Moreira; Leela Shrestha; Shubhashish M M Mukhopadhyay; Nicola A Burgess-Brown; James D Love; Paul E Brennan; Elisabeth P Carpenter
Journal:  Nat Struct Mol Biol       Date:  2021-06-10       Impact factor: 15.369

Review 6.  Spinocerebellar ataxias (SCAs) caused by common mutations.

Authors:  Ulrich Müller
Journal:  Neurogenetics       Date:  2021-08-16       Impact factor: 2.660

7.  Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study.

Authors:  Kokoro Ozaki; Takashi Irioka; Toshiki Uchihara; Akane Yamada; Ayako Nakamura; Takamasa Majima; Susumu Igarashi; Hiroshi Shintaku; Mayumi Yakeishi; Yukio Tsuura; Yasushi Okazaki; Kinya Ishikawa; Takanori Yokota
Journal:  Acta Neuropathol Commun       Date:  2021-10-24       Impact factor: 7.801

8.  Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Authors:  A Matilla-Dueñas; T Ashizawa; A Brice; S Magri; K N McFarland; M Pandolfo; S M Pulst; O Riess; D C Rubinsztein; J Schmidt; T Schmidt; D R Scoles; G Stevanin; F Taroni; B R Underwood; I Sánchez
Journal:  Cerebellum       Date:  2014-04       Impact factor: 3.847

9.  Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer's disease.

Authors:  Yumi Yamaguchi-Kabata; Takashi Morihara; Tomoyuki Ohara; Toshiharu Ninomiya; Atsushi Takahashi; Hiroyasu Akatsu; Yoshio Hashizume; Noriyuki Hayashi; Daichi Shigemizu; Keith A Boroevich; Manabu Ikeda; Michiaki Kubo; Masatoshi Takeda; Tatsuhiko Tsunoda
Journal:  Hum Genet       Date:  2018-07-13       Impact factor: 4.132

10.  Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Authors:  Marie Beaudin; Leila Sellami; Christian Martel; Lydia Touzel-Deschênes; Gabrielle Houle; Laurence Martineau; Kevin Lacroix; Andréane Lavallée; Nicolas Chrestian; Guy A Rouleau; François Gros-Louis; Robert Laforce; Nicolas Dupré
Journal:  Neurol Genet       Date:  2020-02-20
  10 in total

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