Zellweger syndrome
MNP Perera, PD Rathnayaka, EA Jasinge, SK Arulmoli Sri Lanka Journal of Neurology 4:1; 32-33 2015
Cockayne syndrome: picture story
MNP Perera, J Wanigasinghe Sri Lanka Journal of Neurology 4:1; 27-29 2015
A Rare Presentation of Huntington’s Disease; Report of a Sri Lankan Teenager with Westphal Variant
Wijesundara D, Gunawardena K, Senanayake B Movement Disorders Clinical Practice AOPMC Abstracts 10:S1-S126 2023
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.
Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group. Neuromuscular Disorders Jun;31(6):574-582. 2021
Familial Multiple Sclerosis in a Mother and Son Pair: A Sri Lankan and a South Asian First
I Rajapakshe, B Senanayake Multiple Sclerosis Case Reports in Neurological Medicine 1172870 2021https://doi.org/10.1155/2021/1172870
Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report
H Hewavitharana, E Jasinge, H Abeysekera, J Wanigasinghe BMC Pediatrics 20: e338 2020https://doi.org/10.1186/s12887-020-02237-z
The spectrum of deletions and duplications in the dystrophin (DMD) gene in a cohort of patients with Duchenne muscular dystrophy in Sri Lanka
N Thakur, G Abeysekera, J Wanigasinghe, VHW Dissanayake Neurology India 67: 714-716 2019https://doi.org/10.4103/0028-3886.263235
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
D De Silva, KA Williamson, KC Dayasiri, N Suraweera, V Quinters, H Abeysekara, J Wanigasinghe, D De Silva, H De Silva BMC Pediatrics 18: e308 2018https://doi.org/10.1186/s12887-018-1286-5
A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
T Chang, J Cossins, D Beeson BMC Neurology 16: e195 2016https://doi.org/10.1186/s12883-016-0716-y
First contiguous gene deletion causing biotinidase deficiency: the enzyme deficiency in three Sri Lankan children
DN Senanayake, EA Jasinge, K Pindolia, J Wanigasinghe, K Monaghan, SF Suchy, S Wei, S Jaysena, B Wolf Molecular Genetics & Metabolism Reports 2: 81-84 2016https://doi.org/10.1016/j.ymgmr.2015.01.005