KarthikMuthusamyMD

PubMed

• 1 citations
  Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up...
  Karthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, Ruqaiah Altassan, Christin Johnsen, Matthew J Schultz, Marc C Patterson, Eva Morava> ;Genetics in Medicine. 2024 Feb 1
• 1 citations
  CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology.
  Jarosław Dulski, Karthik Muthusamy, Troy C Lund, Zbigniew K Wszolek> ;Parkinsonism & Related Disorders. 2024 Apr 1
• Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent.
  Sweta Das, Maya Thomas, Sangeetha Yoganathan, Karthik Muthusamy, Anitha M Barney, Suneetha Susan Cleave A, Atanu Kumar Dutta, Rekha A, Sony Mohan, Sumita Danda> ;European Journal of Medical Genetics. 2023 Jun 1
• 4 citations
  Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
  Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova> ;Frontiers in Neurology. 2023 Jan 1
• 2 citations
  Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of.
  Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla...> ;Neurology. 2023 Feb 7
• 1 citations
  Perirolandic Sign and Crossed Cerebellar Diaschisis in POLG-Related Disorder.
  Karthik Muthusamy, Sayli Bidkar Umakant, Ajith Sivadasan, Vivek Mathew> ;Annals of Indian Academy of Neurology. 2022 Jul 26
• 7 citations
  The Assessment of Endovascular Therapies in Ischemic Stroke: Management, Problems and Future Approaches.
  Tadeusz J Popiela, Wirginia Krzyściak, Fabio Pilato, Anna Ligęzka, Beata Bystrowska, Karolina Bukowska-Strakova, Paweł Brzegowy, Karthik Muthusamy, Tamas Kozicz> ;Journal of Clinical Medicine. 2022 Mar 28
• 1 citations
  Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
  Karthik Muthusamy, Aseel El-Jabali, Laura J Ongie, Radhika Dhamija, Dusica Babovic-Vuksanovic> ;American Journal of Medical Genetics. Part A. 2021 Nov 19
• 18 citations
  Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
  Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzysciak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Rene...> ;Annals of Neurology. 2021 Oct 26
• 2 citations
  Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
  Karthik Muthusamy, Alejandro Ferrer, Eric W. Klee, Klaas J. Wierenga, Ralitza H. Gavrilova> ;Molecular Genetics & Genomic Medicine. 2021 Sep 12
• 5 citations
  Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency.
  Karthik Muthusamy, Suzanne Boyer, Marc C. Patterson, Jörgen Bierau, Saskia B. Wortmann, Eva Morava> ;Neurology. 2021 Feb 16
• Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas.
  Karthik Muthusamy, John P. Fasolino Md, Erika Driver-Dunckley, Radhika Dhamija> ;Annals of Neurology. 2021 Mar 1
• 1 citations
  Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary f...
  Karthik Muthusamy, Christian Hanna, Derek R. Johnson, Carl H. Cramer, Peter J. Tebben, Sharon E. Libi, Gayla L. Poling, Brendan C. Lanpher, Eva Morava, Lisa A. Schimmenti> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 2 citations
  LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
  Karthik Muthusamy, Maciej M. Mrugala, Bernard R. Bendok, Radhika Dhamija> ;Molecular Genetics & Genomic Medicine. 2021 Jan 1
• 5 citations
  Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
  Laura Schultz-Rogers, Karthik Muthusamy, Filippo Vairo, Eric W. Klee, Brendan C. Lanpher> ;BMC Medical Genetics. 2020 Nov 10
• 5 citations
  Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unma...
  Karthik Muthusamy, Erica L. Macke, Eric W. Klee, Peter J. Tebben, Jennifer L. Hand, Linda Hasadsri, Cherisse A. Marcou, Lisa A. Schimmenti> ;American Journal of Medical Genetics. Part A. 2020 Oct 1
• 14 citations
  Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.
  Katelynn M. Wilton, Joel A. Morales-Rosado, Duygu Selcen, Karthik Muthusamy, Sarah Ewing, Katherine Agre, Katherine C. Nickels, Eric W. Klee, Mai-Lan Ho, Eva Morava> ;JIMD Reports. 2020 Mar 20
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