Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies-Reference-Cited by-同舟云学术

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies

Published:2024-08-20 Issue:1 Volume:14 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Hnilicova Petra,Grendar Marian,Turcanova Koprusakova Monika,Trancikova Kralova Alzbeta,Harsanyiova Jana,Krssak Martin,Just Ivica,Misovicova Nadezda,Hikkelova Martina,Grossmann Jan,Spalek Peter,Meciarova Iveta,Kurca Egon,Zilka Norbert,Zelenak Kamil,Bogner Wolfgang,Kolisek Martin^ORCID

Funder

Agentúra na Podporu Výskumu a Vývoja

Austrian Federal Ministry of Education, Science and Research

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41598-024-69966-4.pdf

Reference97 articles.

1. Miyoshi, K. et al. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain. 109, 31–54. https://doi.org/10.1093/brain/109.1.31 (1986).

2. Takahashi, T. et al. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. J. Neurol. Neurosurg. Psychiatry. 84, 433–40. https://doi.org/10.1136/jnnp-2011-301339 (2013).

3. Zhang, H. et al. Abnormal expression of dysferlin in blood monocytes supports primary dysferlinopathy in patients confirmed by genetic analyses. Front. Neurol. 11, 540098. https://doi.org/10.3389/fneur.2020.540098 (2020).

4. Bejaoui, K. et al. Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. Neurogenetics. 1, 189–96. https://doi.org/10.1007/s100480050028 (1998).

5. Bushby, K. & Straub, V. One gene, one or many diseases? Simplifying dysferlinopathy. Neurology. 75, 298–9. https://doi.org/10.1212/WNL.0b013e3181ea1649 (2010).