Experiences in the molecular genetic and histopathological evaluation of calpainopathies-Reference-Cited by-同舟云学术

Experiences in the molecular genetic and histopathological evaluation of calpainopathies

Published:2022-02-14 Issue:2 Volume:23 Page:103-114
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Ozyilmaz Berk^ORCID,Kirbiyik Ozgur,Ozdemir Taha R.,Ozer Ozge Kaya,Kutbay Yasar B.,Erdogan Kadri M.,Guvenc Merve Saka,Arıkan Şener,Turk Tuba Sozen,Kale Murat Yıldırım,Uludag Irem Fatma,Baydan Figen,Sertpoyraz Filiz,Gencpinar Pinar,Diniz Gulden

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-022-00687-4.pdf

Reference31 articles.

1. Özyilmaz B et al (2019) Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies. Ann Hum Genet 83(5):331–347

2. Richard I et al (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81(1):27–40

3. Murphy AP, Straub V (2015) The classification, natural history and treatment of the limb girdle muscular dystrophies. J Neuromuscul Dis 2(s2):S7–S19

4. Mohassel P, Bönnemann CG (2015) Limb-girdle muscular dystrophies. Neuromuscular disorders of infancy, childhood, and adolescence. Elsevier, pp 635–666

5. Pathak P et al (2020) Mutational spectrum of CAPN3 with genotype-phenotype correlations in limb girdle muscular dystrophy type 2A/R1 (LGMD2A/LGMDR1) patients in India. J Neuromuscul Dis, (Preprint): p. 1–12

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy;Case Reports in Neurological Medicine;2024-01

2. Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels;Molecular Syndromology;2023-10-16

3. How to Read a Muscle or a Nerve Biopsy?;Clues for Differential Diagnosis of Neuromuscular Disorders;2023

4. Muscular Dystrophies;Clues for Differential Diagnosis of Neuromuscular Disorders;2023