Literature DB >> 24338761

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation.

S Peric1, K Fumic, K Bilic, A Reuser, V Rakocevic Stojanovic.   

Abstract

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Year:  2013        PMID: 24338761     DOI: 10.1007/s13760-013-0265-8

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN: 0300-9009            Impact factor:   2.396


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  5 in total

1.  Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).

Authors:  Matteo Garibaldi; Sabrina Sacconi; Giovanni Antonini; Claude Desnuelle
Journal:  J Neurol       Date:  2017-01-24       Impact factor: 4.849

2.  Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.

Authors:  Manuela Corti; Cristina Liberati; Barbara K Smith; Lee Ann Lawson; Ibrahim S Tuna; Thomas J Conlon; Kirsten E Coleman; Saleem Islam; Roland W Herzog; David D Fuller; Shelley W Collins; Barry J Byrne
Journal:  Hum Gene Ther Clin Dev       Date:  2017-12       Impact factor: 5.032

3.  Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Authors:  Jousef Alandy-Dy; Marie Wencel; Kathy Hall; Julie Simon; Yanjun Chen; Erik Valenti; Jade Yang; Deeksha Bali; Anita Lakatos; Namita Goyal; Tahseen Mozaffar; Virginia Kimonis
Journal:  Ann Transl Med       Date:  2019-07

Review 4.  NF-κB-Mediated Inflammation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. Does Autophagy Play a Role?

Authors:  Elzbieta Pawlowska; Joanna Szczepanska; Karol Wisniewski; Paulina Tokarz; Dariusz J Jaskólski; Janusz Blasiak
Journal:  Int J Mol Sci       Date:  2018-04-19       Impact factor: 5.923

5.  Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report.

Authors:  Bin Zhang; Yuying Zhao; Junling Liu; Ling Li; Jingli Shan; Dandan Zhao; Chuanzhu Yan
Journal:  Neuropsychiatr Dis Treat       Date:  2016-03-29       Impact factor: 2.570

  5 in total

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