Literature DB >> 22619055

Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep.

Ayumi Hida, Hiroyuki Ishiura, Noritoshi Arai, Hisayo Fukuoka, Kanehiro Hasuo, Jun Goto, Yoshikazu Uesaka, Shoji Tsuji, Sousuke Takeuchi.   

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Year:  2012        PMID： 22619055     DOI： 10.1007/s00415-012-6540-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  12 in total

1.  Sleep apnea associated with floppy epiglottis in adult-onset Alexander disease: a case report.

Authors:  Masanori Ishikawa; Takayoshi Shimohata; Tomohiko Ishihara; Hideaki Nakayama; Masahiko Tomita; Masatoyo Nishizawa
Journal:  Mov Disord       Date:  2010-06-15       Impact factor: 10.338

Review 2.  The clinical spectrum of late-onset Alexander disease: a systematic literature review.

Authors:  Pietro Balbi; Silvana Salvini; Cira Fundarò; Giuseppe Frazzitta; Roberto Maestri; Dibo Mosah; Carla Uggetti; GianPietro Sechi
Journal:  J Neurol       Date:  2010-08-20       Impact factor: 4.849

3.  Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.

Authors:  M Kyllerman; L Rosengren; L-M Wiklund; E Holmberg
Journal:  Neuropediatrics       Date:  2005-10       Impact factor: 1.947

4.  Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease.

Authors:  Kimiteru Ito; Sousuke Takeuchi; Kanehiro Hasuo; Miyako Morooka; Kazuo Kubota; Hiroshi Matsuda
Journal:  Clin Nucl Med       Date:  2009-12       Impact factor: 7.794

5.  Early diagnosis and stage classification of vocal cord abductor paralysis in patients with multiple system atrophy.

Authors:  E Isozaki; A Naito; S Horiguchi; R Kawamura; T Hayashida; H Tanabe
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-04       Impact factor: 10.154

6.  Laryngeal abductor paralysis in multiple system atrophy. A report on three necropsied cases, with observations on the laryngeal muscles and the nuclei ambigui.

Authors:  R Bannister; W Gibson; L Michaels; D R Oppenheimer
Journal:  Brain       Date:  1981-06       Impact factor: 13.501

7.  Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

Authors:  Erika Stumpf; Hélène Masson; Antoine Duquette; France Berthelet; Julia McNabb; Anne Lortie; Jacques Lesage; Jacques Montplaisir; Bernard Brais; Patrick Cossette
Journal:  Arch Neurol       Date:  2003-09

Review 8.  Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Authors:  Davide Pareyson; Roberto Fancellu; Caterina Mariotti; Silvia Romano; Andrea Salmaggi; Francesco Carella; Floriano Girotti; Grazietta Gattellaro; Maria Rita Carriero; Laura Farina; Isabella Ceccherini; Mario Savoiardo
Journal:  Brain       Date:  2008-08-06       Impact factor: 13.501

9.  Adult-onset Alexander disease with progressive ataxia and palatal tremor.

Authors:  Katherine L Howard; Deborah A Hall; Michelle Moon; Pinky Agarwal; Elizabeth Newman; Michael Brenner
Journal:  Mov Disord       Date:  2008-01       Impact factor: 10.338

10.  GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Authors:  M Prust; J Wang; H Morizono; A Messing; M Brenner; E Gordon; T Hartka; A Sokohl; R Schiffmann; H Gordish-Dressman; R Albin; H Amartino; K Brockman; A Dinopoulos; M T Dotti; D Fain; R Fernandez; J Ferreira; J Fleming; D Gill; M Griebel; H Heilstedt; P Kaplan; D Lewis; M Nakagawa; R Pedersen; A Reddy; Y Sawaishi; M Schneider; E Sherr; Y Takiyama; K Wakabayashi; J R Gorospe; A Vanderver
Journal:  Neurology       Date:  2011-09-14       Impact factor: 11.800
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  2 in total

Review 1.  Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Authors:  Katayoun Heshmatzad; Niloofar Naderi; Tannaz Masoumi; Hamidreza Pouraliakbar; Samira Kalayinia
Journal:  Eur J Med Res       Date:  2022-09-10       Impact factor: 4.981

2.  Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

Authors:  Stephanie R Keller; Eric J Mallack; Jennifer P Rubin; Jennifer A Accardo; Jennifer A Brault; Camille S Corre; Camila Elizondo; Jennifer Garafola; April C Jackson-Garcia; Jullie Rhee; Elisa Seeger; Kaprice C Shullanberger; Amanda Tourjee; Melissa K Trovato; Amy T Waldman; Jenna L Wallace; Michael R Wallace; Klaus Werner; Angela White; Kevin C Ess; Catherine Becker; Florian S Eichler
Journal:  J Child Neurol       Date:  2020-09-02       Impact factor: 1.987
  2 in total

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