Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 28 min ago
Peer-reviewedCC BY-NC-NDAnnals of Indian Academy of Neurology

Atypical Phenotype of Marinesco–Sjögren Syndrome with Predominant Myopathy due to a Novel SIL1 Variant

Related

  1. Novel Compound Heterozygous CEP152 Variants Associated with Atypical Seckel Syndrome 5 in a Chinese Child: Functional Characterization of a Novel Splice-Site Variant and Expansion of the Genotype-Phenotype Spectrum.
    Mu Du, Pengchao Wang, Ziqin Liu +1
    GenesPeer-reviewedCC BYFull textGenetics & genomicsEurope PMC
  2. Neonatal AAV-SIL1 gene therapy prevents Marinesco-Sjögren syndrome in mice
    C. Pasini, G. Lavigna, A. Grasso +6
    bioRxivPreprintCC BY-NC-NDFull textNeurosciencebioRxiv
  3. Therapeutic potential of Sishen Pill: modulating intestinal mucosal microbiota and barrier function in diarrhea-predominant irritable bowel syndrome with Spleen-Kidney Yang Deficiency
    Liwen LI, Qi LONG, Zhoujin TAN +1
    Bioscience of Microbiota, Food and HealthPeer-reviewedCC BY-NC-NDFull textMicrobiologyJ-STAGE
  4. Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report.
    Anil Jain, Deyab Mohamed, Gauri Satheesh Nair +3
    CureusPeer-reviewedCC BYFull textImmunologyEurope PMCPMC
  5. Case Report: A young female with co-morbid SLE and atypical hemolytic uremic syndrome carrying IRF5 risk variants
    Huili Zhou, Wei Liu, Tingting Sun +3
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Full textImmunologyCrossrefEurope PMCPMC
BibTeX
@article{ram2026atypical,
  title = {{Atypical Phenotype of Marinesco–Sjögren Syndrome with Predominant Myopathy due to a Novel SIL1 Variant}},
  author = {N Aravind Ram and Asish Vijayaraghavan and Kiren Koshy and Sruthi Nair and Syam Krishnan},
  journal = {Annals of Indian Academy of Neurology},
  year = {2026},
  month = may,
  doi = {10.4103/aian.aian_176_26},
  url = {https://hal.science/hal-05784824v1},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Atypical Phenotype of Marinesco–Sjögren Syndrome with Predominant Myopathy due to a Novel SIL1 Variant
AU  - N Aravind Ram
AU  - Asish Vijayaraghavan
AU  - Kiren Koshy
AU  - Sruthi Nair
AU  - Syam Krishnan
PY  - 2026
DA  - 2026/05/29
JO  - Annals of Indian Academy of Neurology
DO  - 10.4103/aian.aian_176_26
UR  - https://hal.science/hal-05784824v1
SN  - 0972-2327
ER  -