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Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics

Frontiers in neurology, 2020-08, Vol.11, p.627-627

2020

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Perirolandic sign and crossed cerebellar diaschisis in POLG-Related disorder

Annals of the Indian Academy of Neurology, 2022-09, Vol.25 (5), p.933-934

2022

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Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

BMC medical genetics, 2020-11, Vol.21 (1), p.219-219, Article 219

2020

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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Frontiers in neurology, 2023-07, Vol.14, p.1219324-1219324

2023

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Clinical profile, prognostic indicators, and therapeutic outcomes of pediatric opsoclonus-myoclonus-ataxia syndrome: A single-center experience from South India

Annals of the Indian Academy of Neurology, 2019-07, Vol.22 (3), p.295-301

2019

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P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases

Genetics in Medicine Open, 2024, Vol.2, p.101082, Article 101082

2024

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The Assessment of Endovascular Therapies in Ischemic Stroke: Management, Problems and Future Approaches

Journal of clinical medicine, 2022-03, Vol.11 (7), p.1864

2022

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LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis

Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1560-n/a

2021

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Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1799-n/a

2021

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A rare treatable and under recognized cause of recurrent convexity subarachnoid hemorrhage: Lupus anticoagulant hypoprothombinemia syndrome

Annals of the Indian Academy of Neurology, 2021-11, Vol.24 (6), p.986-989

2021

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Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent

Journal of genetics, 2020-12, Vol.99 (1), Article 79

2020

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Comorbidities and long-term outcomes in a cohort with myasthenic crisis: Experiences from a tertiary care center

Annals of the Indian Academy of Neurology, 2019-10, Vol.22 (4), p.464-471

2019

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Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

JIMD reports, 2020-05, Vol.53 (1), p.22-28

2020

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Clinical Spectrum, Therapeutic Outcomes, and Prognostic Predictors in Sjogren's Syndrome-associated Neuropathy

Annals of the Indian Academy of Neurology, 2017-07, Vol.20 (3), p.278-283

2017

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The diagnostic value of congenital and nevoid cutaneous lesions associated with autism spectrum disorders in indian children-A case-control study

Indian Dermatology Online Journal, 2021-01, Vol.12 (1), p.84-89

2021

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Specific Learning Disability in India: Challenges and Opportunities

Indian journal of pediatrics, 2020-02, Vol.87 (2), p.91-92

2020

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Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series

Journal of clinical and diagnostic research, 2016-05, Vol.10 (5), p.NR01-NR04

2016

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CLINICAL SIGNIFICANCE OF INCIDENTAL FINDINGS IN CARDIOMYOPATHY GENES AMONG DIAGNOSTIC ODYSSEY CASES

Journal of the American College of Cardiology, 2024-04, Vol.83 (13), p.369-369

2024

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A case of Erdheim Chester disease with central nervous system involvement

Annals of the Indian Academy of Neurology, 2015-07, Vol.18 (3), p.338-341

2015

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Subacute sclerosing panencephalitis in a child with human immunodeficiency virus (HIV) infection on antiretroviral therapy

Annals of the Indian Academy of Neurology, 2015-01, Vol.18 (1), p.96-98

2015

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CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology

Parkinsonism & related disorders, 2024-04, Vol.121, p.105894-105894, Article 105894

2024

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Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event

European journal of human genetics : EJHG, 2023-01, Vol.31 (1), p.73-80

2023

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Solving the hypomyelination conundrum - Imaging perspectives

European journal of paediatric neurology, 2020-07, Vol.27, p.9-24

2020

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eP028: Neurological manifestations in PMM2 related congenital disorders of glycosylation (CDG): Insights into clinico-radiological characteristics and recommendations for follow-up

Genetics in medicine, 2022-03, Vol.24 (3), p.S19-S19

2022

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Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

Molecular genetics and metabolism reports, 2015-06, Vol.3 (C), p.33-35

2015

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Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics

Perirolandic sign and crossed cerebellar diaschisis in POLG-Related disorder

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

Clinical profile, prognostic indicators, and therapeutic outcomes of pediatric opsoclonus-myoclonus-ataxia syndrome: A single-center experience from South India

P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases

The Assessment of Endovascular Therapies in Ischemic Stroke: Management, Problems and Future Approaches

LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

A rare treatable and under recognized cause of recurrent convexity subarachnoid hemorrhage: Lupus anticoagulant hypoprothombinemia syndrome

Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent

Comorbidities and long-term outcomes in a cohort with myasthenic crisis: Experiences from a tertiary care center

Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1

Clinical Spectrum, Therapeutic Outcomes, and Prognostic Predictors in Sjogren's Syndrome-associated Neuropathy

The diagnostic value of congenital and nevoid cutaneous lesions associated with autism spectrum disorders in indian children-A case-control study

Specific Learning Disability in India: Challenges and Opportunities

Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series

CLINICAL SIGNIFICANCE OF INCIDENTAL FINDINGS IN CARDIOMYOPATHY GENES AMONG DIAGNOSTIC ODYSSEY CASES

A case of Erdheim Chester disease with central nervous system involvement

Subacute sclerosing panencephalitis in a child with human immunodeficiency virus (HIV) infection on antiretroviral therapy

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event

Solving the hypomyelination conundrum - Imaging perspectives

eP028: Neurological manifestations in PMM2 related congenital disorders of glycosylation (CDG): Insights into clinico-radiological characteristics and recommendations for follow-up

Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

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