Skip to content
DraconiticResearch
Search Sources API
197,768 studies31 sourcesUpdated 47 min ago
Peer-reviewedCC BYTremor and other hyperkinetic movements (New York, N.Y.)

Clinical and Genetic Spectrum of VPS13A Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort

  • Archita Makharia1
  • Atif I. Shaikh2
  • Jacky Ganguly3
  • Ayush Agarwal1
  • Vijayashankar Paramanandam4
  • Mitesh Chandarana5
  • Soaham Desai6
  • Vaibhav Mathur7
  • Kartika Gulati8
  • Sanjay Pandey8
  • Hrishikesh Kumar3
  • Achal Kumar Srivastava1
1 more authors
  • Divyani Garg1
8 affiliations
  1. 1Department of Neurology, All India Institute of Medical Sciences , New Delhi, India
  2. 2Department of Neurosciences, Christian Medical College , Vellore, India
  3. 3Department of Neurology, Institute of Neurosciences , Kolkata, India
  4. 4Department of Neurology, Apollo Hospitals , Greams Road, Chennai, India
  5. 5Marengo CIMS Hospital , Ahmedabad, India
  6. 6Zydus Hospitals , Anand, India
  7. 7Narayana Health , Jaipur, India
  8. 8Amrita Institute of Medical Sciences , Faridabad, India
Read full textPDFCite

Related

  1. Clinical profiles, referral patterns and low vision aid prescribing across four rehabilitation centres in Ghana: protocol for a multicentre retrospective record review
    Kwadwo Owusu Akuffo, Josephine Ampong, Josephine Ampomah Boateng +27
    Frontiers in medicinePeer-reviewedCC BYFull textGeneral medicineEurope PMC
  2. Clinical Characteristics and Factors Associated with Severe Disease in 64 Patients with Targeted Next-Generation Sequencing-Confirmed Chlamydia Psittaci Pneumonia: A Single-Centre Retrospective Study in Ningxia, China
    Yanni Yang, Qingrui Li, Jing Yang +9
    Infection and Drug ResistancePeer-reviewedCC BY-NC 4.0Full textEpidemiology & public healthPMC
  3. Hospital-based prevalence of culture-confirmed melioidosis among high-risk patients in India, 2023–25: a multicentre prospective study
    Nitin Gupta, Mohammed Ashiq, Tirlangi Praveen Kumar +64
    The Lancet Global HealthPeer-reviewedCC BY 4.01 citedEpidemiology & public healthCrossref
  4. Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT-Related Case.
    Gustavo Rodrigues Ferreira Gomes, Antonio Edvan Camelo Filho, Ellen Mourão Soares Lopes +5
    Journal of the peripheral nervous system : JPNSPeer-reviewedCC BYFull textGeneral medicineEurope PMC
  5. The Clinical and Diagnostic Spectrum of Esophagitis Dissecans Superficialis: A Comprehensive Retrospective Case Series and Literature Review
    Btissam Essâdi, Ayoub Bouziane, Ouiam Elmqaddam +4
    CureusPeer-reviewedCC BYFull textGeneral medicineEurope PMC

Cite

BibTeXRIS
BibTeX
@article{makharia2026clinical,
  title = {{Clinical and Genetic Spectrum of VPS13A Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort}},
  author = {Archita Makharia and Atif I. Shaikh and Jacky Ganguly and Ayush Agarwal and Vijayashankar Paramanandam and Mitesh Chandarana and Soaham Desai and Vaibhav Mathur and Kartika Gulati and Sanjay Pandey and Hrishikesh Kumar and Achal Kumar Srivastava and Divyani Garg},
  journal = {Tremor and other hyperkinetic movements (New York, N.Y.)},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13674526},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Clinical and Genetic Spectrum of VPS13A Disease Across India: A Retrospective Multicentre Genetically Confirmed Cohort
AU  - Archita Makharia
AU  - Atif I. Shaikh
AU  - Jacky Ganguly
AU  - Ayush Agarwal
AU  - Vijayashankar Paramanandam
AU  - Mitesh Chandarana
AU  - Soaham Desai
AU  - Vaibhav Mathur
AU  - Kartika Gulati
AU  - Sanjay Pandey
AU  - Hrishikesh Kumar
AU  - Achal Kumar Srivastava
AU  - Divyani Garg
PY  - 2026
DA  - 2026/10/19
JO  - Tremor and other hyperkinetic movements (New York, N.Y.)
UR  - https://europepmc.org/article/PMC/PMC13674526
SN  - 2160-8288
ER  -