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Connection

Aravindhan Veerapandiyan to Mutation

This is a "connection" page, showing publications Aravindhan Veerapandiyan has written about Mutation.

 
Connection Strength
  
 
 
1.567
  
  1. Veerapandiyan A, Winchester SA, Gallentine WB, Smith EC, Kansagra S, Hyland K, Mikati MA. Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. Epilepsy Behav. 2011 Mar; 20(3):494-501.
    View in: PubMed
    Score: 0.248
  2. Veerapandiyan A, Chinn IK, Schoch K, Maloney KA, Shashi V. Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation. Eur J Med Genet. 2011 Jan-Feb; 54(1):63-6.
    View in: PubMed
    Score: 0.242
  3. Schuberth K, Ramani PK, Beemarajan E, Veerapandiyan A. Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality. Neurology. 2023 08 15; 101(7):328-332.
    View in: PubMed
    Score: 0.144
  4. ElSheikh RH, Aravindhan A, Boysen S, Veerapandiyan A. Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene. Pediatr Neurol. 2022 09; 134:71.
    View in: PubMed
    Score: 0.136
  5. Boysen S, Elumalai V, ElSheikh RH, Aravindhan A, Veerapandiyan A. Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene. J Clin Neurosci. 2022 06; 100:212-213.
    View in: PubMed
    Score: 0.133
  6. Sharma R, Aravindhan A, Puente C, Veerapandiyan A. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene. J Investig Med High Impact Case Rep. 2022 Jan-Dec; 10:23247096221139670.
    View in: PubMed
    Score: 0.132
  7. Dhasakeerthi T, Aravindhan A, Woodall A, Mills W, Veerapandiyan A. Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene. J Clin Neuromuscul Dis. 2021 Sep 01; 23(1):54-55.
    View in: PubMed
    Score: 0.129
  8. Malatesta L, Arya K, Gokden M, Stefans V, Veerapandiyan A. BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review. J Clin Neuromuscul Dis. 2020 Jun; 21(4):230-239.
    View in: PubMed
    Score: 0.118
  9. Silverstein S, Veerapandiyan A, Hayes-Rosen C, Ming X, Kornitzer J. A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia. Metab Brain Dis. 2019 02; 34(1):373-376.
    View in: PubMed
    Score: 0.106
  10. Aravindhan A, Veerapandiyan A, Earley C, Thulasi V, Kresge C, Kornitzer J. Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene. Neurology. 2018 03 27; 90(13):622-624.
    View in: PubMed
    Score: 0.102
  11. Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. Genet Med. 2010 Jul; 12(7):424-30.
    View in: PubMed
    Score: 0.059
  12. Leonard AS, Hyder SN, Kolls BJ, Arehart E, Ng KC, Veerapandiyan A, Mikati MA. Seizure predisposition after perinatal hypoxia: effects of subsequent age and of an epilepsy predisposing gene mutation. Epilepsia. 2013 Oct; 54(10):1789-800.
    View in: PubMed
    Score: 0.019
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.