Found: 105
Select item for more details and to access through your institution.
Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 7, p. 886, doi. 10.1002/mdc3.13516
- By:
- Publication type:
- Article
Association of Scrub Typhus in Children with Acute Encephalitis Syndrome and Meningoencephalitis, Southern India.
- Published in:
- Emerging Infectious Diseases, 2023, v. 29, n. 4, p. 711, doi. 10.3201/eid2904.221157
- By:
- Publication type:
- Article
Reversible Basal Ganglia Changes in a Child With Infantile Tremor Syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Images.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Encephalitis-like Presentation in Infants of Bodo Tribe — Thiamine Deficiency or Leigh-like Disease?
- Published in:
- 2022
- By:
- Publication type:
- Letter
CASPR2-Mediated Autoimmune Encephalitis in a Toddler.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Correspondence.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Correspondence.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Levetiracetam versus Phenobarbitone in Neonatal Seizures — A Randomized Controlled Trial.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 8, p. 643, doi. 10.1007/s13312-019-1586-3
- By:
- Publication type:
- Article
Association of Anti N-methyl-D-aspartate (NMDA) Receptor Encephalitis with Chediak-Higashi Syndrome.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 6, p. 501, doi. 10.1007/s13312-019-1577-4
- By:
- Publication type:
- Article
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00613-9
- By:
- Publication type:
- Article
Diagnostic markers of acute encephalitis syndrome and COVID‐associated multisystem inflammatory syndrome in children from Southern India.
- Published in:
- Journal of Medical Virology, 2024, v. 96, n. 5, p. 1, doi. 10.1002/jmv.29666
- By:
- Publication type:
- Article
Childhood movement disorders: Clinicoetiological pattern and long-term follow-up at tertiary care center from South India.
- Published in:
- Journal of Neurosciences in Rural Practice, 2023, v. 14, n. 1, p. 21, doi. 10.25259/JNRP_17_2022
- By:
- Publication type:
- Article
A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms.
- Published in:
- Journal of Neurosciences in Rural Practice, 2022, v. 13, n. 3, p. 403, doi. 10.1055/s-0042-1744469
- By:
- Publication type:
- Article
Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India.
- Published in:
- Journal of Neurosciences in Rural Practice, 2021, v. 12, n. 1, p. 133, doi. 10.1055/s-0040-1721557
- By:
- Publication type:
- Article
Spectrum of Nonepileptic Paroxysmal Events in Children from Southern India.
- Published in:
- Journal of Neurosciences in Rural Practice, 2019, v. 10, n. 4, p. 608, doi. 10.1055/s-0039-3399472
- By:
- Publication type:
- Article
Caregiver-reported health-related quality of life of children with cerebral palsy and their families and its association with gross motor function: A South Indian study.
- Published in:
- Journal of Neurosciences in Rural Practice, 2016, v. 7, n. 2, p. 223, doi. 10.4103/0976-3147.178657
- By:
- Publication type:
- Article
Commentary.
- Published in:
- 2014
- By:
- Publication type:
- Opinion
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2446, doi. 10.1002/ajmg.a.63310
- By:
- Publication type:
- Article
Prevalence of Peripheral Neuropathy in Children with Type 1 Diabetes Mellitus.
- Published in:
- Journal of Pediatric Neurosciences, 2023, v. 18, p. 51, doi. 10.4103/jpn.JPN_179_21
- By:
- Publication type:
- Article
Osteoporosis Pseudoglioma Syndrome.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 334, doi. 10.4103/jpn.JPN_107_20
- By:
- Publication type:
- Article
Levetiracetam versus Fosphenytoin in Pediatric Convulsive Status Epilepticus: A Randomized Controlled Trial.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 252, doi. 10.4103/jpn.JPN_109_19
- By:
- Publication type:
- Article
Macrophagic Myofasciitis: A Report of Two South Indian Infants.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 279, doi. 10.4103/jpn.JPN_141_19
- By:
- Publication type:
- Article
Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene.
- Published in:
- Journal of Pediatric Neurosciences, 2017, v. 12, n. 2, p. 196, doi. 10.4103/jpn.JPN_183_16
- By:
- Publication type:
- Article
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
- Published in:
- Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 78, doi. 10.4103/1817-1745.205623
- By:
- Publication type:
- Article
Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India.
- Published in:
- Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 115, doi. 10.4103/1817-1745.205656
- By:
- Publication type:
- Article
Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma.
- Published in:
- Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 185, doi. 10.4103/1817-1745.159212
- By:
- Publication type:
- Article
Clinical profile, predisposing factors, and associated co-morbidities of children with cerebral palsy in South India.
- Published in:
- Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 108, doi. 10.4103/1817-1745.159191
- By:
- Publication type:
- Article
Paralytic rabies following cat scratch and intra-dermal anti-rabies vaccination.
- Published in:
- Journal of Pediatric Neurosciences, 2014, v. 9, n. 2, p. 154, doi. 10.4103/1817-1745.139328
- By:
- Publication type:
- Article
Acute flaccid myelitis-Clustering of polio-like illness in the tertiary care centre in Southern India.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Case Series of Infantile Tremor Syndrome in Tertiary Care Paediatric Centre from Southern India.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.
- Published in:
- British Journal of Dermatology, 2024, v. 191, n. 3, p. 437, doi. 10.1093/bjd/ljae151
- By:
- Publication type:
- Article
Lack of association of Stevens–Johnson syndrome/toxic epidermal necrolysis due to aromatic anticonvulsants and HLA‐B alleles in South Indian children.
- Published in:
- International Journal of Dermatology, 2024, v. 63, n. 5, p. e97, doi. 10.1111/ijd.17104
- By:
- Publication type:
- Article
Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India.
- Published in:
- Epilepsia Open, 2023, v. 8, n. 4, p. 1383, doi. 10.1002/epi4.12811
- By:
- Publication type:
- Article
Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings.
- Published in:
- Advanced Biomedical Research, 2023, v. 12, n. 6, p. 1, doi. 10.4103/abr.abr_98_22
- By:
- Publication type:
- Article
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor ( SHQ1) from Indian population.
- Published in:
- Journal of Family Medicine & Primary Care, 2024, v. 13, n. 1, p. 208, doi. 10.4103/jfmpc.jfmpc_979_23
- By:
- Publication type:
- Article
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.
- Published in:
- Metabolic Brain Disease, 2022, v. 37, n. 3, p. 743, doi. 10.1007/s11011-021-00889-z
- By:
- Publication type:
- Article
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 3, p. 709, doi. 10.1111/epi.17880
- By:
- Publication type:
- Article
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1910, doi. 10.1002/acn3.51874
- By:
- Publication type:
- Article
Clinical Profile and Outcome in Children with Post Diphtheritic Paralysis in a Tertiary Care Hospital in Southern India.
- Published in:
- Iranian Journal of Child Neurology, 2022, v. 16, n. 2, p. 107, doi. 10.22037/ijcn.v16i1.23092
- By:
- Publication type:
- Article
Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator.
- Published in:
- Iranian Journal of Child Neurology, 2017, v. 11, n. 3, p. 48
- By:
- Publication type:
- Article
Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 3, p. 347, doi. 10.4103/aian.AIAN_386_20
- By:
- Publication type:
- Article
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 8, p. 1919, doi. 10.1007/s00415-019-09358-1
- By:
- Publication type:
- Article
Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 3, p. 945, doi. 10.1111/ene.14682
- By:
- Publication type:
- Article
Basal Ganglia Autoimmune Encephalitis Following Leptospirosis.
- Published in:
- Neurology India, 2022, v. 70, n. 5, p. 2121, doi. 10.4103/0028-3886.359156
- By:
- Publication type:
- Article
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia.
- Published in:
- Movement Disorders, 2024, v. 39, n. 6, p. 983, doi. 10.1002/mds.29754
- By:
- Publication type:
- Article
Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.
- Published in:
- 2024
- By:
- Publication type:
- Letter