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Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Journal of human genetics, 2021-08, Vol.66 (8), p.813-823

2021

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Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Scientific reports, 2023-09, Vol.13 (1), p.15095-15095, Article 15095

2023

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Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform

Journal of neurology, 2022-04, Vol.269 (4), p.2113-2125

2022

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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.373-377

2020

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Respiratory shoulder synkinesis: A rare case report

Annals of the Indian Academy of Neurology, 2023-07, Vol.26 (4), p.610-611

2023

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Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation

Journal of neuroinflammation, 2020-08, Vol.17 (1), p.1-15, Article 232

2020

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A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein

Journal of molecular neuroscience, 2021-12, Vol.71 (12), p.2468-2473

2021

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Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual

Stem cell research, 2024-04, Vol.76, p.103355-103355, Article 103355

2024

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Sensory neuropathy in spinocerebellar ataxia type 14: A novel phenotype

Annals of the Indian Academy of Neurology, 2023-07, Vol.26 (4), p.591-593

2023

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Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis

Journal of clinical ultrasound, 2022-02, Vol.50 (2), p.286-291

2022

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An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings

Chronic illness, 2023-06, Vol.19 (2), p.458-471

2023

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Development of Guidelines for Spouses Engaged in Home-Based Care of Persons With Motor Neuron Disease From Indian Context

Journal of patient experience, 2022-02, Vol.9, p.23743735221077535-23743735221077535

2022

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Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Journal of human genetics, 2021-08, Vol.66 (8), p.841-841

2021

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The Connecting Link: A Case Report of the First Association of COVID-19 and Progressive Multifocal Leukoencephalopathy

Annals of the Indian Academy of Neurology, 2023-11, Vol.26 (6), p.1028-1030

2023

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FDG-PET in autoimmune encephalitis: Utility, pattern of abnormalities, and correlation with autoantibodies

Annals of the Indian Academy of Neurology, 2022-11, Vol.25 (6), p.1122-1129

2022

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A meta-ethnographic synthesis of lived experience of spouse caregivers in chronic illness

Qualitative social work : QSW : research and practice, 2022-03, Vol.21 (2), p.431-454

2022

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DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia

Annals of the Indian Academy of Neurology, 2023-05, Vol.26 (3), p.286-288

2023

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Mutation spectrum of primary lipid storage myopathies

Annals of the Indian Academy of Neurology, 2022-01, Vol.25 (1), p.106-113

2022

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Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy

Global medical genetics, 2024-06, Vol.11 (2), p.167-174

2024

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A rare case of Anti-N-Methyl-D-Aspartate receptor encephalitis in an infant presenting with regression and movement disorder

Annals of the Indian Academy of Neurology, 2023-03, Vol.26 (2), p.197-199

2023

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Lichtenstein-Knorr syndrome: A rare case of ataxia with sensorineural hearing loss

Annals of the Indian Academy of Neurology, 2022-09, Vol.25 (5), p.970-973

2022

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A short course of tranexamic acid to continue anticoagulation and control bleed in cerebral venous thrombosis with abnormal uterine bleeding and anemia

Annals of the Indian Academy of Neurology, 2022-11, Vol.25 (6), p.1236-1238

2022

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Cooccurrence of anti-N-methyl-D-aspartate receptor encephalitis and COVID-19 infection – Case series of two patients with a brief review of literature

Asian Journal of Medical Sciences, 2022-08, Vol.13 (8), p.245-249

2022

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Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

Respiratory shoulder synkinesis: A rare case report

Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation

A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein

Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual

Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India

Sensory neuropathy in spinocerebellar ataxia type 14: A novel phenotype

Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis

An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings

Development of Guidelines for Spouses Engaged in Home-Based Care of Persons With Motor Neuron Disease From Indian Context

Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome

The Connecting Link: A Case Report of the First Association of COVID-19 and Progressive Multifocal Leukoencephalopathy

FDG-PET in autoimmune encephalitis: Utility, pattern of abnormalities, and correlation with autoantibodies

A meta-ethnographic synthesis of lived experience of spouse caregivers in chronic illness

DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia

Mutation spectrum of primary lipid storage myopathies

Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy

A rare case of Anti-N-Methyl-D-Aspartate receptor encephalitis in an infant presenting with regression and movement disorder

Lichtenstein-Knorr syndrome: A rare case of ataxia with sensorineural hearing loss

A short course of tranexamic acid to continue anticoagulation and control bleed in cerebral venous thrombosis with abnormal uterine bleeding and anemia

Cooccurrence of anti-N-methyl-D-aspartate receptor encephalitis and COVID-19 infection – Case series of two patients with a brief review of literature

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