Found: 56
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Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype.
- Published in:
- Neurology Asia, 2024, v. 29, n. 2, p. 397, doi. 10.54029/2024ifk
- By:
- Publication type:
- Article
Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Painless legs and moving toes in chronic inflammatory demyelinating polyradiculoneuropathy.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Rare Encephalitis-Like Presentation of a Pediatric Patient with Dual Positive Aquaporin-4 and Myelin Oligodendrocyte Antibodies: A Case Report with Review of Literature.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Spastic ataxia with sensory neuropathy sans cerebral leukodystrophy in probable adult polyglucosan body disease.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.
- Published in:
- Neurology India, 2023, v. 71, n. 6, p. 1257, doi. 10.4103/0028-3886.391402
- By:
- Publication type:
- Article
Phenotypic features of epilepsy due to sodium channelopathies - A single center experience from India.
- Published in:
- Journal of Neurosciences in Rural Practice, 2023, n. 4, p. 603, doi. 10.25259/JNRP_329_2023
- By:
- Publication type:
- Article
Adult-Onset Ischemic Moyamoya Disease: Reasoning and Decision-Making.
- Published in:
- Neurology India, 2023, v. 71, n. 5, p. 1065, doi. 10.4103/0028-3886.388102
- By:
- Publication type:
- Article
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 727, doi. 10.3233/JND-230017
- By:
- Publication type:
- Article
Altered cerebellar lobular volumes correlate with clinical deficits in siblings and children with ASD: evidence from toddlers.
- Published in:
- Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04090-x
- By:
- Publication type:
- Article
Anti-GAD antibodies associated autoimmunity presenting as isolated dementia: an expansion of GAD antibody-spectrum disorders.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Pediatric neurobrucellosis: a systematic review with case report.
- Published in:
- Journal of Tropical Pediatrics, 2023, v. 69, n. 1, p. 1, doi. 10.1093/tropej/fmad004
- By:
- Publication type:
- Article
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
- Published in:
- Neurogenetics, 2023, v. 24, n. 1, p. 43, doi. 10.1007/s10048-022-00707-3
- By:
- Publication type:
- Article
Neuro-Bechet's disease: a case series from India.
- Published in:
- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2022, v. 58, p. 1, doi. 10.1186/s41983-022-00586-3
- By:
- Publication type:
- Article
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
Cervical dystonia with cerebellar ataxia in KCNA1 mutation: A phenotypic expansion.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
Isolated mitochondrial myopathy due to m.3243A > G mutation in MT-TL1 gene.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Delayed Cervical Dystonia with Tremors in a Patient with Wernicke Encephalopathy: An Expansion of Complication.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Levodopa Non-Responsive Parkinsonism in Tuberculous Cerebral Arteritis: A Rare Occurrence.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
Vascular Parkinsonism with Dystonia in Moyamoya Disease: An Expansion of Movement Disorder Phenomenology.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
Granulomatous Panuveitis in Multiple Sclerosis: A Rare Occurrence.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
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
Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.
- Published in:
- Neurology India, 2022, v. 70, n. 1, p. 231, doi. 10.4103/0028-3886.338691
- By:
- Publication type:
- Article
Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 6, p. 908, doi. 10.4103/aian.AIAN_223_21
- By:
- Publication type:
- Article
Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1505, doi. 10.1002/jimd.12439
- By:
- Publication type:
- Article
Kennedy's disease: A second genetically confirmed report from India.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
ADCY5-related dyskinesia: A genetic cause of early-onset chorea-report of two cases and a novel mutation.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A Novel Mutation in Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India.
- Published in:
- 2021
- By:
- Publication type:
- case study
Stroke-like episodes with cerebellar ataxia as presenting manifestation of adult-onset anti-N-methyl d-aspartate receptor encephalitis: an unusual presentation.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Upbeat Nystagmus in Late Onset Cerebellar Ataxia: Think of Anti-Glutamate Decarboxylase 65 Antibody-Associated Cerebellar Ataxia.
- Published in:
- 2021
- By:
- Publication type:
- Literary Criticism
Rapidly progressive spastic paraplegia due to hyperhomocysteinemia in child with MTHFR gene mutation and mitochondrial Complex I deficiency: A rare association.
- Published in:
- Journal of Pediatric Neurosciences, 2021, v. 16, n. 2, p. 153, doi. 10.4103/jpn.JPN_96_20
- By:
- Publication type:
- Article
Postpartum Optic Neuropathy: Think of Myelin Oligodendrocyte Glycoprotein Immunoglobulin G-Associated Optic Neuritis - Report of Two Cases.
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation.
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
Emerging behavioral and neuroimaging biomarkers for early and accurate characterization of autism spectrum disorders: a systematic review.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01178-6
- By:
- Publication type:
- Article
A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 283, doi. 10.4103/jpn.JPN_152_19
- By:
- Publication type:
- Article
Electroencephalography as a Diagnostic Aid in a Girl with Neuroregression and Stereotypies.
- Published in:
- Journal of Neurosciences in Rural Practice, 2020, v. 11, n. 2, p. 359, doi. 10.1055/s-0040-1709264
- By:
- Publication type:
- Article
Episodic hemiparesis precipitated by trauma.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Tumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.
- Published in:
- 2020
- By:
- Publication type:
- journal article
'All that waddles is not dystrophy'.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Myelopathy in two brothers with respiratory chain disorder–severe complex 1 deficiency with atlantoaxial dislocation and long spinal arachnoid cyst: A new unreported association.
- Published in:
- Journal of Pediatric Neurosciences, 2020, v. 15, n. 1, p. 45, doi. 10.4103/jpn.JPN_94_19
- By:
- Publication type:
- Article
X-linked Adrenoleukodystrophy: Atypical Clinico-Radiological Presentation.
- Published in:
- 2019
- By:
- Publication type:
- case study
Proximal Myopathy as a Presenting Manifestation of Wilson's Disease.
- Published in:
- 2019
- By:
- Publication type:
- case study
Schwartz-Jampel Syndrome Mimicking Myotonia Congenita.
- Published in:
- 2019
- By:
- Publication type:
- case study
Home-based Sensory Interventions in Children with Autism Spectrum Disorder: A Randomized Controlled Trial.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Non-multiple-sclerosis-related typical and atypical white matter disorders: Our experience in the last 2 years in both children and adults from a tertiary care center in India.
- Published in:
- Journal of Pediatric Neurosciences, 2019, v. 14, n. 1, p. 20, doi. 10.4103/JPN.JPN_37_19
- By:
- Publication type:
- Article