K. Polavarapu

发表

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

P. Missier, S. Beltran, Hanns Lochmüller, 2019, Human mutation.

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

A. Nalini, T. Kandavel, J. Saini, 2021, Journal of clinical ultrasound : JCU.

Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G

K. Thangaraj, A. Nalini, N. Gayathri, 2014, PloS one.

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

A. Nalini, M. Purushottam, K. Polavarapu, 2016, Journal of clinical neurology.

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India

A. Nalini, K. Polavarapu, G. Unnikrishnan, 2021, Global Medical Genetics.

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

A. Nalini, K. Polavarapu, S. Vengalil, 2022, Chronic illness.

Family Caregivers’ Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India

A. Nalini, K. Polavarapu, S. Vengalil, 2019, Journal of social work in end-of-life & palliative care.

In Vivo Evaluation of White Matter Abnormalities in Children with Duchenne Muscular Dystrophy Using DTI

M. Ingalhalikar, A. Nalini, A. Shah, 2020, American Journal of Neuroradiology.

GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics

A. Nalini, Anupam Gupta, Meeka Khanna, 2019, Neuromuscular Disorders.

Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome

A. Nalini, S. Alladi, M. Faruq, 2021, Acta neurologica Scandinavica.

A. Mahadevan, T. Sathyaprabha, A. Nalini, 2020, Neurology. Clinical practice.

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

T. Raju, A. Varghese, T. Sathyaprabha, 2020, Journal of Neuroinflammation.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

P. Chinnery, H. Lochmüller, R. Horvath, 2021, Brain : a journal of neurology.

[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report

S. Züchner, A. Rebelo, A. Nalini, 2021, Journal of Neuromuscular Diseases.

Proximal and proximo-distal bimelic amyotrophy: Evidence of cervical flexion induced myelopathy

A. Nalini, K. Polavarapu, C. Prasad, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy

A. Nalini, K. Polavarapu, C. Prasad, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease

K. Thennarasu, A. Nalini, J. Saini, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

Robert W. Taylor, H. Lochmüller, R. Horvath, 2019, European Journal of Human Genetics.

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

H. Lochmüller, R. Horvath, M. Faruq, 2021, neurogenetics.

Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.

A. Nalini, D. Nagabushana, K. Polavarapu, 2021, Journal of neuromuscular diseases.

PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings

A. Nalini, K. Polavarapu, B. Nandeesh, 2022, Neurological Research and Practice.

Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?

A. Nalini, R. Yadav, K. Polavarapu, 2021, Sleep medicine.

Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort

T. Delhaas, T. Sathyaprabha, A. Nalini, 2019, Journal of Neurology.

Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.

A. Nalini, K. Polavarapu, B. Nandeesh, 2022, Journal of neuromuscular diseases.

Beevor's sign: a potential clinical marker for GNE myopathy

I. Nishino, Hanns Lochmüller, A. Nalini, 2016, European journal of neurology.

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis

H. Lochmüller, Rachel Thompson, E. Zanoteli, 2021, European journal of neurology.

Case Report: Neurobrucellosis with Plastered Spinal Arachnoiditis: A Magnetic Resonance Imaging-Based Report.

A. Nalini, J. Saini, K. Bhattacharya, 2018, The American journal of tropical medicine and hygiene.

Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study.

G. Parry, A. Mahadevan, A. Nalini, 2019, The American journal of tropical medicine and hygiene.

Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for Mycobacterium leprae DNA by Polymerase Chain Reaction Method.

G. Parry, A. Mahadevan, A. Nalini, 2020, The American journal of tropical medicine and hygiene.

Mutation Spectrum of Primary Lipid Storage Myopathies

I. Nishino, A. Nalini, M. Faruq, 2022, Annals of Indian Academy of Neurology.

Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome

A. Nalini, R. Christopher, N. Gayathri, 2017, Neuromuscular Disorders.

Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern

T. Sathyaprabha, A. Nalini, R. Bharath, 2016, Neuromuscular Disorders.

A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India.

A. Nalini, N. Gayathri, K. Polavarapu, 2015, Neurology India.

Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C

A. Nalini, K. Polavarapu, S. Vengalil, 2022, neurogenetics.

Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations

S. Chakrabarti, Sudipto Roy, A. Nalini, 2020, European journal of neurology.

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

F. Muntoni, G. Ravenscroft, N. Laing, 2022, Neuromuscular Disorders.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Anti-AChR, MuSK, and LRP4 antibodies coexistence: A rare and distinct subtype of myasthenia gravis from Indian subcontinent.

A. Nalini, S. Patil, K. Polavarapu, 2018, Clinica chimica acta; international journal of clinical chemistry.

Comparison of Speech Tasks for Automatic Classification of Patients with Amyotrophic Lateral Sclerosis and Healthy Subjects

Prasanta Kumar Ghosh, Aravind Illa, B. K. Yamini, 2018, 2018 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP).

Ventral longitudinal intraspinal fluid collection: Rare presentation as brachial amyotrophy and intracranial hypotension

A. Nalini, M. Netravathi, K. Polavarapu, 2019, The journal of spinal cord medicine.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

M. Gut, I. Gut, S. Beltran, 2018, American journal of medical genetics. Part A.

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

A. Nalini, M. Purushottam, N. Gayathri, 2017, BMC Medical Genetics.

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

Hanns Lochmüller, A. Nalini, K. Polavarapu, 2021, Children.

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

I. Nishino, R. Horvath, D. Nagabushana, 2021, Journal of Human Genetics.

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

I. Nishino, R. Horvath, A. Nalini, 2021, Journal of Human Genetics.

A. Nalini, Y. Nishimoto, I. Mizuta, 2020, Frontiers in Neurology.

CARASIL families from India with 3 novel null mutations in the HTRA1 gene

A. Nalini, O. Onodera, J. Saini, 2017, Neurology.

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

M. Ingalhalikar, A. Nalini, P. Govindaraj, 2021, Journal of Neurology.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Neuroimaging in leprosy: The nerves and beyond

A. Mahadevan, A. Nalini, J. Saini, 2020 .

Palliative Care Needs and Care Giver Burden in Neurodegenerative Diseases: A Cross Sectional Study

S. Alladi, R. Yadav, P. Pal, 2020, Annals of Indian Academy of Neurology.

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection

A. Srivastava, M. Faruq, A. Nalini, 2020, Neurobiology of Aging.

Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscle.

Manish Kumar, A. Nalini, T. S. Keshava Prasad, 2020, Journal of proteomics.

Intrafamilial phenotypic variations in familial cases of cervical flexion induced myelopathy/Hirayama disease

A. Nalini, K. Bhattacharya, N. Pruthi, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy.

T. Raju, T. Sathyaprabha, A. Nalini, 2023, Journal of neuromuscular diseases.

Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding

A. Nalini, K. Polavarapu, S. Vengalil, 2021, Indian journal of palliative care.

Anti-N-methyl-D-aspartate-receptor Encephalitis as a Harbinger of Pediatric HIV Infection

J. Saini, K. Bhattacharya, D. Nagabushana, 2021, Journal of pediatric neurosciences.

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients

A. Nalini, K. Polavarapu, B. Nandeesh, 2023, Journal of neuromuscular diseases.

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene

A. Nalini, V. Pai, Rikita Gupta, 2023, Human Mutation.

Symposium 3: Motor neuron disease SY3.1. Monomelic amyotrophy – Experience from a large cohort

A. Nalini, K. Polavarapu, D. Bhat, 2021, Clinical Neurophysiology.

Acoustic-to-Articulatory Inversion for Dysarthric Speech by Using Cross-Corpus Acoustic-Articulatory Data

Prasanta Kumar Ghosh, Sarthak Kumar Maharana, Aravind Illa, 2021, ICASSP 2021 - 2021 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP).

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

K. Thangaraj, M. Faruq, A. Nalini, 2022, neurogenetics.

Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in India

A. Nalini, K. Polavarapu, S. Vengalil, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

H. Lochmüller, M. Faruq, A. Nalini, 2021, Journal of neuromuscular diseases.

A. Nalini, D. Baskar, H. Padmanabha, 2023, Journal of neuromuscular diseases.

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

K. Satyamoorthy, Aditi Joshi, S. Chaudhari, 2021, Journal of Molecular Neuroscience.

Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis

A. Nalini, K. Polavarapu, S. Vengalil, 2020, Indian journal of palliative care.

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Pedro Rebelo-Guiomar, L. Van Haute, M. Minczuk, 2023, Nature Communications.

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.

H. Lochmüller, A. Nalini, Vykuntaraju K Gowda, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Evidence for Mycobacterium leprae Drug Resistance in a Large Cohort of Leprous Neuropathy Patients from India.

G. Parry, A. Mahadevan, A. Nalini, 2020, The American journal of tropical medicine and hygiene.

Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India

K. Thennarasu, A. Nalini, N. Gayathri, 2018, Neurology India.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.

D. Baskar, K. Polavarapu, G. Unnikrishnan, 2023, Internal medicine journal.

Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease

K. Thennarasu, A. Nalini, J. Saini, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.

E. Zanoteli, A. Hentschel, Y. Azuma, 2023, Journal of neurology.

A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient

Y. Chickabasaviah, K. Polavarapu, S. Vengalil, 2023, Journal of neuromuscular diseases.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

K. Bhattacharya, N. Pruthi, K. Polavarapu, 2017 .

Family with Ehlers–Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness

A. Nalini, N. Gayathri, K. Polavarapu, 2017, Neurology India.

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

M. Vorgerd, H. Lochmüller, R. Horvath, 2023, Molecular Neurobiology.

Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort

K. Polavarapu, Jamuna Rajeshwaran, S. Vengalil, 2024, Neurology India.

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects

L. Matalonga, A. Töpf, K. Polavarapu, 2024, Neuromuscular Disorders.