Literature DB >> 26944269

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge.

Berendine J Ebbink1, Esther Poelman1, Iris Plug1, Maarten H Lequin1, Pieter A van Doorn1, Femke K Aarsen1, Ans T van der Ploeg1, Johanna M P van den Hout2.   

Abstract

Mesh：

Year:  2016        PMID： 26944269     DOI： 10.1212/WNL.0000000000002523

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  18 in total

Review 1.  Newborn screening: Taiwanese experience.

Authors:  Yin-Hsiu Chien; Wuh-Liang Hwu; Ni-Chung Lee
Journal:  Ann Transl Med       Date:  2019-07

Review 2.  An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Authors:  Aditi Korlimarla; Jeong-A Lim; Priya S Kishnani; Baodong Sun
Journal:  Ann Transl Med       Date:  2019-07

3.  Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

Authors:  Francesco Puzzo; Pasqualina Colella; Maria G Biferi; Deeksha Bali; Nicole K Paulk; Patrice Vidal; Fanny Collaud; Marcelo Simon-Sola; Severine Charles; Romain Hardet; Christian Leborgne; Amine Meliani; Mathilde Cohen-Tannoudji; Stephanie Astord; Bernard Gjata; Pauline Sellier; Laetitia van Wittenberghe; Alban Vignaud; Florence Boisgerault; Martine Barkats; Pascal Laforet; Mark A Kay; Dwight D Koeberl; Giuseppe Ronzitti; Federico Mingozzi
Journal:  Sci Transl Med       Date:  2017-11-29       Impact factor: 17.956

4.  Improved efficacy of a next-generation ERT in murine Pompe disease.

Authors:  Su Xu; Yi Lun; Michelle Frascella; Anadina Garcia; Rebecca Soska; Anju Nair; Abdul S Ponery; Adriane Schilling; Jessie Feng; Steven Tuske; Maria Cecilia Della Valle; José A Martina; Evelyn Ralston; Russell Gotschall; Kenneth J Valenzano; Rosa Puertollano; Hung V Do; Nina Raben; Richie Khanna
Journal:  JCI Insight       Date:  2019-03-07

5.  Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

Authors:  Gail A Spiridigliozzi; Lori A Keeling; Mihaela Stefanescu; Cindy Li; Stephanie Austin; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2017-05-01       Impact factor: 4.797

Review 6.  Progress and challenges of gene therapy for Pompe disease.

Authors:  Giuseppe Ronzitti; Fanny Collaud; Pascal Laforet; Federico Mingozzi
Journal:  Ann Transl Med       Date:  2019-07

Review 7.  Long-term outcome and unmet needs in infantile-onset Pompe disease.

Authors:  Andreas Hahn; Anne Schänzer
Journal:  Ann Transl Med       Date:  2019-07

Review 8.  Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease.

Authors:  Gerben J Schaaf; Rodrigo Canibano-Fraile; Tom J M van Gestel; Ans T van der Ploeg; W W M Pim Pijnappel
Journal:  Ann Transl Med       Date:  2019-07

9.  Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Authors:  A Broomfield; J Fletcher; P Hensman; R Wright; H Prunty; J Pavaine; S A Jones
Journal:  JIMD Rep       Date:  2017-07-20

10.  A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.

Authors:  Ni-Chung Lee; Wuh-Liang Hwu; Shin-Ichi Muramatsu; Darin J Falk; Barry J Byrne; Chia-Hao Cheng; Nien-Chu Shih; Kai-Ling Chang; Li-Kai Tsai; Yin-Hsiu Chien
Journal:  Mol Neurobiol       Date:  2017-09-11       Impact factor: 5.590
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