Found: 35
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A retrospective review of LMNB1-related autosomal dominant leukodystrophy.
- Published in:
- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00055-w
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- Publication type:
- Article
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 7, p. 937, doi. 10.1177/0883073814541470
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- Publication type:
- Article
Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.
- Published in:
- Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-020-01244-4
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- Publication type:
- Article
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1799
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- Publication type:
- Article
LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1560
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- Publication type:
- Article
Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 911, doi. 10.1002/ajmg.a.62575
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- Publication type:
- Article
Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 261, doi. 10.1002/ajmg.a.61942
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- Publication type:
- Article
Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2442, doi. 10.1002/ajmg.a.61792
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- Publication type:
- Article
Siblings with fucosidosis.
- Published in:
- Journal of Pediatric Neurosciences, 2014, v. 9, n. 2, p. 156, doi. 10.4103/1817-1745.139331
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- Publication type:
- Article
EEG lateralization and seizure outcome following peri-insular hemispherotomy for pediatric hemispheric epilepsy.
- Published in:
- Child's Nervous System, 2019, v. 35, n. 7, p. 1189, doi. 10.1007/s00381-019-04067-6
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- Publication type:
- Article
The Assessment of Endovascular Therapies in Ischemic Stroke: Management, Problems and Future Approaches.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1864, doi. 10.3390/jcm11071864
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- Publication type:
- Article
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01159-y
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- Publication type:
- Article
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 22, doi. 10.1002/jmd2.12114
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- Publication type:
- Article
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1219324
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- Publication type:
- Article
The diagnostic value of congenital and nevoid cutaneous lesions associated with autism spectrum disorders in indian children-A case-control study.
- Published in:
- Indian Dermatology Online Journal, 2021, v. 12, n. 1, p. 84, doi. 10.4103/idoj.IDOJ_275_20
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- Publication type:
- Article
Perirolandic sign and crossed cerebellar diaschisis in POLG-Related disorder.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A Rare Treatable and Under Recognized Cause of Recurrent Convexity Subarachnoid Hemorrhage: Lupus Anticoagulant Hypoprothombinemia Syndrome.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 6, p. 986, doi. 10.4103/aian.AIAN_804_20
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- Publication type:
- Article
Comorbidities and long-term outcomes in a cohort with myasthenic crisis: Experiences from a tertiary care center.
- Published in:
- Annals of Indian Academy of Neurology, 2019, v. 22, n. 4, p. 464, doi. 10.4103/aian.AIAN_197_19
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- Publication type:
- Article
Clinical Profile, Prognostic Indicators, and Therapeutic Outcomes of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: A Single-Center Experience from South India.
- Published in:
- Annals of Indian Academy of Neurology, 2019, v. 22, n. 3, p. 295, doi. 10.4103/aian.AIAN_101_18
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- Publication type:
- Article
Clinical Spectrum, Therapeutic Outcomes, and Prognostic Predictors in Sjogren's Syndrome-associated Neuropathy.
- Published in:
- Annals of Indian Academy of Neurology, 2017, v. 20, n. 3, p. 278, doi. 10.4103/aian.AIAN_116_17
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- Publication type:
- Article
A case of Erdheim Chester disease with central nervous system involvement.
- Published in:
- Annals of Indian Academy of Neurology, 2015, v. 18, n. 3, p. 338, doi. 10.4103/0972-2327.157181
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- Publication type:
- Article
Subacute sclerosing panencephalitis in a child with human immunodeficiency virus (HIV) infection on antiretroviral therapy.
- Published in:
- Annals of Indian Academy of Neurology, 2015, v. 18, n. 1, p. 96, doi. 10.4103/0972-2327.144299
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- Publication type:
- Article
Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 6, p. 887, doi. 10.1002/ana.26245
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- Publication type:
- Article
Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 3, p. 623, doi. 10.1002/ana.25992
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- Publication type:
- Article
Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics.
- Published in:
- Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00627
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- Publication type:
- Article
Sonothrombolysis for acute ischemic stroke - Break on through to the other side.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Natural history of multiple sclerosis from the Indian perspective: Experience from a tertiary care hospital.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Methyl bromide poisoning presenting as acute ataxia.
- Published in:
- Neurology India, 2011, v. 59, n. 5, p. 768, doi. 10.4103/0028-3886.86561
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- Publication type:
- Article
Existence results for coupled sequential ψ-Hilfer fractional impulsive BVPs: topological degree theory approach.
- Published in:
- Boundary Value Problems, 2024, v. 2024, n. 1, p. 1, doi. 10.1186/s13661-024-01901-y
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- Publication type:
- Article
Specific Learning Disability in India: Challenges and Opportunities.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Imaging in Pediatric Demyelinating and Inflammatory Diseases of the Brain- Part 1.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Imaging in Pediatric Demyelinating and Inflammatory Diseases of Brain- Part 2.
- Published in:
- 2016
- By:
- Publication type:
- journal article