Found: 40
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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2775, doi. 10.1093/brain/awae056
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- Publication type:
- Article
International Consensus Statement on the Radiologic Evaluation of Dysraphic Malformations of the Spine and Spinal Cord.
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- American Journal of Neuroradiology, 2024, v. 45, n. 6, p. 673, doi. 10.3174/ajnr.A8117
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- Publication type:
- Article
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1219324
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- Publication type:
- Article
Intraoperative MRI Assessment of the Tissue Damage during Laser Ablation of Hypothalamic Hamartoma.
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- Diagnostics (2075-4418), 2023, v. 13, n. 14, p. 2331, doi. 10.3390/diagnostics13142331
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- Publication type:
- Article
Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review.
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- Neuroradiology, 2023, v. 65, n. 6, p. 1077, doi. 10.1007/s00234-023-03150-9
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- Publication type:
- Article
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
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- Cells (2073-4409), 2023, v. 12, n. 7, p. 1046, doi. 10.3390/cells12071046
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- Publication type:
- Article
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.
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- Neuroradiology, 2022, v. 64, n. 11, p. 2163, doi. 10.1007/s00234-022-02990-1
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- Publication type:
- Article
Fumaric aciduria: A rare cause of refractory epilepsy.
- Published in:
- 2022
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- Publication type:
- Case Study
Patterns of spinal cord malformation in cloacal exstrophy.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2021, v. 28, n. 2, p. 236, doi. 10.3171/2021.1.PEDS20648
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- Publication type:
- Article
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis
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- Child's Nervous System, 2021, v. 37, n. 7, p. 2375, doi. 10.1007/s00381-020-04986-9
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- Publication type:
- Article
Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.
- Published in:
- 2021
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- Publication type:
- Letter to the Editor
Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder.
- Published in:
- 2021
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- Publication type:
- Letter to the Editor
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
- Published in:
- Annals of Neurology, 2020, v. 88, n. 5, p. 867, doi. 10.1002/ana.25879
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- Publication type:
- Article
Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)--A Case Series.
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- Indian Dermatology Online Journal, 2020, v. 11, n. 5, p. 738, doi. 10.4103/idoj.IDOJ_520_19
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- Publication type:
- Article
Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics.
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- Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00627
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- Publication type:
- Article
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
- Published in:
- 2020
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- Publication type:
- journal article
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 117, doi. 10.1111/jns.12368
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- Publication type:
- Article
Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder.
- Published in:
- 2020
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- Publication type:
- Case Study
Molecular correlates of cerebellar mutism syndrome in medulloblastoma.
- Published in:
- Neuro-Oncology, 2020, v. 22, n. 2, p. 290, doi. 10.1093/neuonc/noz158
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- Publication type:
- Article
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
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- Annals of Indian Academy of Neurology, 2020, v. 23, n. 1, p. 113, doi. 10.4103/aian.AIAN_213_18
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- Publication type:
- Article
Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.
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- 2019
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- Publication type:
- journal article
Clinical Profile, Prognostic Indicators, and Therapeutic Outcomes of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: A Single-Center Experience from South India.
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- 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
Imaging features of rhinocerebral mucormycosis: A study of 43 patients.
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- Egyptian Journal of Radiology & Nuclear Medicine, 2018, v. 49, n. 2, p. 447, doi. 10.1016/j.ejrnm.2018.01.001
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- Publication type:
- Article
Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.
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- Iranian Journal of Child Neurology, 2018, v. 12, n. 2, p. 107
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- Publication type:
- Article
Stroke in a Child with Dengue Encephalopathy.
- Published in:
- 2017
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- Publication type:
- Case Study
Menkes disease and response to copper histidine: An Indian case series.
- Published in:
- Annals of Indian Academy of Neurology, 2017, v. 20, n. 1, p. 62, doi. 10.4103/0972-2327.199907
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- Publication type:
- Article
Pathognomonic MRI and MR spectroscopy findings in cerebral hydatid cyst.
- Published in:
- Acta Neurologica Belgica, 2016, v. 116, n. 3, p. 353, doi. 10.1007/s13760-015-0561-6
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- Publication type:
- Article
Imaging in Pediatric Demyelinating and Inflammatory Diseases of the Brain- Part 1.
- Published in:
- 2016
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- Publication type:
- journal article
Imaging in Pediatric Demyelinating and Inflammatory Diseases of Brain- Part 2.
- Published in:
- 2016
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- Publication type:
- journal article
Ocular Features and Visual Outcome in Children with Moyamoya Disease and Moyamoya Syndrome: A Case Series.
- Published in:
- 2016
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- Publication type:
- Case Study
A tropical menace of co-infection of Japanese encephalitis and neurocysticercosis in two children.
- Published in:
- 2016
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- Publication type:
- Case Study
Uncommon mixed and sclerotic jaw lesions.
- Published in:
- Applied Radiology, 2016, v. 45, n. 1, p. 9, doi. 10.37549/ar2246
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- Publication type:
- Article
Abnormal Chest Radiograph Due to a Common Lung Finding in Down Syndrome.
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- Oman Medical Journal, 2016, v. 31, n. 1, p. 81, doi. 10.5001/omj.2016.16
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- Publication type:
- Article
A case of Erdheim Chester disease with central nervous system involvement.
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- 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
The multiple associations of Klippel-Feil syndrome.
- Published in:
- Acta Neurologica Belgica, 2015, v. 115, n. 2, p. 157, doi. 10.1007/s13760-014-0315-x
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- Publication type:
- Article
Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H) Syndrome With Vertebral Anomalies: A Novel Association.
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- Journal of Child Neurology, 2015, v. 30, n. 7, p. 937, doi. 10.1177/0883073814541470
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- Publication type:
- Article
Cavernous sinus syndrome due to skull base metastasis: A rare presentation of hepatocellular carcinoma.
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- Neurology India, 2015, v. 63, n. 3, p. 437, doi. 10.4103/0028-3886.158247
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- Publication type:
- Article
Neuroradiology. Clinical, imaging and histopathological features of isolated CNS lymphomatoid granulomatosis.
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- Indian Journal of Radiology & Imaging, 2015, v. 25, n. 1, p. 56, doi. 10.4103/0971-3026.150149
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- Publication type:
- Article
Asymptomatic gastrosplenic fistula in a patient with marginal zonal lymphoma transformed to diffuse large B cell lymphoma-a case report and review of literature.
- Published in:
- 2014
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- Publication type:
- Letter
Calcifying fibrous tumour: an unusual omental lesion.
- Published in:
- Pediatric Radiology, 2008, v. 38, n. 11, p. 1246, doi. 10.1007/s00247-008-0955-1
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- Publication type:
- Article