An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease-Reference-Cited by-同舟云学术

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

Published:2019-10-24 Issue:4 Volume:46 Page:359-374
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathol Appl Neurobiol

Author:

Kulessa M.¹,Weyer‐Menkhoff I.²,Viergutz L.¹,Kornblum C.³⁴,Claeys K. G.⁵⁶,Schneider I.⁷,Plöckinger U.⁸,Young P.⁹¹⁰,Boentert M.⁹,Vielhaber S.¹¹,Mawrin C.¹²^ORCID,Bergmann M.¹³,Weis J.¹⁴,Ziagaki A.⁸,Stenzel W.¹⁵^ORCID,Deschauer M.¹⁶,Nolte D.¹⁷,Hahn A.¹⁸,Schoser B.¹⁹,Schänzer A.¹^ORCID

Affiliation:

1. Institute of Neuropathology Justus Liebig University GiessenGermany

2. Institute of Clinical Pharmacology Goethe University Frankfurt/MainGermany

3. Department of NeurologyUniversity Hospital Bonn BonnGermany

4. Center for Rare Diseases University Hospital Bonn Bonn Germany

5. Department of Neurology University Hospital Leuven LeuvenBelgium

6. Laboratory for Muscle Diseases and Neuropathies Department of Neurosciences KU Leuven Leuven Belgium

7. Department of Neurology Martin Luther University Halle‐Wittenberg HalleGermany

8. Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism Charité‐University Medicine Berlin BerlinGermany

9. Department of Sleep Medicine and Neuromuscular Disorders Muenster University Hospital MünsterGermany

10. Medical Park Reithofpark Bad Feilnbach Germany

11. Department of NeurologyOtto‐von‐Guericke University MagdeburgGermany

12. Institute of Neuropathology Otto‐von‐Guericke University MagdeburgGermany

13. Institute of Clinical Neuropathology Klinikum Bremen‐Mitte BremenGermany

14. Institute of Neuropathology RWTH University Hospital AachenGermany

15. Department of Neuropathology Charité – Universitätsmedizin BerlinGermany

16. Department of Neurology Technical University of Munich MunichGermany

17. Institute of Human GeneticsJustus Liebig University Giessen GiessenGermany

18. Department of Child Neurology Justus Liebig University Giessen GiessenGermany

19. Department of Neurology Friedrich‐Baur‐Institute LMU University Munich Munich Germany

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12580

Reference51 articles.

1. Characterization of the human lysosomal α-glucosidase gene

2. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

3. The genotype-phenotype correlation in Pompe disease

4. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

5. Genotype-phenotype correlation in Pompe disease, a step forward

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