L. Kirola

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Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

A. Mukherjee, M. Mutsuddi, L. Kirola, 2022, Molecular Neurobiology.

Genetic emergence of B.1.617.2 in COVID-19

L. Kirola, 2021, New Microbes and New Infections.

Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.

M. Behari, B. Thelma, L. Kirola, 2016, Parkinsonism & related disorders.

A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability

M. Kabra, B. Thelma, K. Mittal, 2018, Gene Reports.

A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome

O. Birk, M. Kabra, N. Gupta, 2022, Annals of human genetics.

Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.

C. Schwartz, T. Wood, Y. Zarate, 2019, Clinical dysmorphology.

A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

C. Skinner, Marilyn C. Jones, T. Brandt, 2022, Gene Reports.

Identification and molecular characterization of two recurrent missense mutations in RS1 gene in two families with X-linked retinoschisis from North India.

A. Mukherjee, M. Mutsuddi, Souradip Chatterjee, 2023, American journal of medical genetics. Part A.

DPP6 gene in European American Alzheimer s Disease

C. Cruchaga, J. Budde, J. Norton, 2020, medRxiv.

Does gut brain axis has an impact on Parkinson’s disease (PD)?

Ssang-Goo Cho, N. S. Kumar, B. Vellingiri, 2023, Ageing Research Reviews.

Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population

C. Cruchaga, J. Budde, J. Norton, 2021, Acta Neuropathologica.