KuntalSenMD

PubMed

• Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
  Rima Izem, Yuelin Long, Jiji Jiang, Laura L Konczal, Robert J McCarter, , Kuntal Sen, Andrea L Gropman, Jirair K Bedoyan> ;Molecular Genetics & Genomic Medicine. 2024 Apr 1
• Targeted Needs Assessment for a National Neurogenetics Curriculum.
  Gottlieb-Smith, R., Sen, K., Dang, L., Strelzik, J.> ;Pediatric Neurology. 2024 Mar 1
• 1 citations
  Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders.
  Marina Eskandar, Laura Tochen, Mi Ran Shin, Bennett Lavenstein, Meira Meltzer, Andrea Gropman, Kuntal Sen> ;Pediatric Neurology. 2023 Dec 1
• Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy.
  Vivien X Xie, Dana Harrar, Jonathan Murnick, Diana Bharucha-Goebel, Kuntal Sen> ;Neuropediatrics. 2024 Apr 1
• When Zebras Collide: Differentiating Rare Causes of Recurrent Posterior Circulation Infarcts in a Child.
  Ilyse Genser, Kuntal Sen, Matthew A Sherman, Abigail Bosk, Sangeeta Sule, Jonathan Murnick, Monica S Pearl, Dana Harrar> ;Pediatric Neurology. 2023 May 1
• 2 citations
  Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
  Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Pal...> ;Molecular Genetics and Metabolism Reports. 2022 Dec 1
• 1 citations
  Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome.
  Kuntal Sen, Ilyse Genser, Marc DiFazio, Marc DiSabella> ;Neuropediatrics. 2022 Aug 1
• 2 citations
  Gaps in Neurogenetics Education During Child Neurology Residency: Results of a National Survey.
  Kuntal Sen, Marc T DiSabella, Jennifer Harmon, Jeffrey A Strelzik, Andrea L Gropman> ;Journal of Child Neurology. 2022 Aug 1
• 2 citations
  Neuromonitoring in Rare Disorders of Metabolism.
  Carlos Castillo-Pinto, Kuntal Sen, Andrea Gropman> ;The Yale Journal of Biology and Medicine. 2021 Dec 1
• 7 citations
  Fifteen years of urea cycle disorders brain research: Looking back, looking forward.
  Kuntal Sen, Matthew T. Whitehead, Carlos Castillo Pinto, Ljubica Caldovic, Andrea L. Gropman> ;Analytical Biochemistry. 2021 Oct 9
• 2 citations
  Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
  Kuntal Sen, George Grahame, Jirair K. Bedoyan, Andrea L. Gropman> ;European Journal of Paediatric Neurology. 2021 Jan 22
• 9 citations
  Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype.
  Kuntal Sen, Melesilika Finau, Pritha Ghosh> ;Journal of Neurology. 2020 Jul 4
• Join now to see all