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Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: patil sj. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.
Patil SJ, Rai GK, Bhat V, Ramesh VA, Nagarajaram HA, Matalia J, Phadke SR. Patil SJ, et al. Am J Med Genet A. 2014 Nov;164A(11):2857-62. doi: 10.1002/ajmg.a.36702. Epub 2014 Aug 5. Am J Med Genet A. 2014. PMID: 25099528
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Saini N, Venkatapuram VS, Vineeth VS, Kulkarni A, Tandon A, Koppolu G, Patil SJ, Dalal A, Aggarwal S. Saini N, et al. Among authors: patil sj. Prenat Diagn. 2022 Jun;42(7):911-926. doi: 10.1002/pd.6172. Epub 2022 Jun 1. Prenat Diagn. 2022. PMID: 35587316
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Majethia P, et al. Among authors: patil sj. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. Clin Genet. 2024. PMID: 38374498 Free PMC article.
A Case Report of Recurrent Hypokalemic Paralysis-missing the "Period".
Rajadhyax S, Chauhan B, Huded V, Patil SJ, Kannan A, Bhat V, Kannan S. Rajadhyax S, et al. Among authors: patil sj. Neurol India. 2019 Jul-Aug;67(4):1117-1119. doi: 10.4103/0028-3886.266245. Neurol India. 2019. PMID: 31512650 Free article. No abstract available.
98 results