Works matching DE "HEREDITARY central nervous system demyelinating diseases"
Results: 41
Developmental delay and assessment in an infant with PCWH syndrome: A case report.
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- Annals of Movement Disorders, 2023, v. 6, n. 2, p. 96, doi. 10.4103/aomd.aomd_34_22
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- Article
Coexistence of Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyradiculoneuropathy with conduction blocks.
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- Neurology & Clinical Neuroscience, 2016, v. 4, n. 5, p. 192, doi. 10.1111/ncn3.12071
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- Article
An Ecological Analysis of Hospitalization Patterns for Diseases of the Nervous System in England and Wales over the Last 20 Years.
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- Healthcare (2227-9032), 2022, v. 10, n. 9, p. 1670, doi. 10.3390/healthcare10091670
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- Article
Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
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- Iranian Journal of Medical Sciences, 2021, v. 46, n. 6, p. 493, doi. 10.30476/IJMS.2021.87126.1736
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- Article
Genetic investigation of Leukodystrophy in Iran.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 11
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- Article
Pelizaeus-Merzbacher- Disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD).
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 9
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- Article
Acquired CNS Demyelinating Syndrome in Children Referred to Shiraz Pediatric Neurology Ward.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 2, p. 18
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- Article
A new mutation in GFAP widens the spectrum of Alexander disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 1, doi. 10.1038/ejhg.2014.99
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- Article
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.
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- Colombia Medica, 2018, v. 49, n. 2, p. 182, doi. 10.25100/cm.v49i2.2522
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- Article
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
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- 2018
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- Publication type:
- Letter
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
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- 2018
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- Publication type:
- Letter
From The Archives.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 688, doi. 10.1093/brain/awt050
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- Article
Leukodystrophy-like presentation in a child: A case of hereditary spastic paraparesis-35.
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- 2022
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- Case Study
Adult-Onset Dystonia with Late-Onset Epilepsy in TUBB4A-Related Hypomyelinating Leukodystrophy--A New Intermediate Phenotype.
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- 2022
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- Publication type:
- Letter to the Editor
LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 3, p. 413, doi. 10.4103/aian.AIAN_1262_20
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- Article
Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 3, p. 347, doi. 10.4103/aian.AIAN_386_20
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- Article
A genetically proven case of Pelizaeus-Merzbacher disease: Clinicoradiological clues.
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- 2016
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- Case Study
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India.
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- Annals of Indian Academy of Neurology, 2016, v. 19, n. 3, p. 332, doi. 10.4103/0972-2327.179975
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- Article
Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder.
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- 2016
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- Case Study
Brain atrophy in Pelizaeus-Merzbacher disease.
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- 2016
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- Publication type:
- journal article
Clinical spectrum and IgG subclass analysis of anti-myelin oligodendrocyte glycoprotein antibody-associated syndromes: a multicenter study.
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- Journal of Neurology, 2017, v. 264, n. 12, p. 2420, doi. 10.1007/s00415-017-8635-4
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- Article
Large coverage MR neurography in CIDP: diagnostic accuracy and electrophysiological correlation.
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- Journal of Neurology, 2017, v. 264, n. 7, p. 1434, doi. 10.1007/s00415-017-8543-7
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- Article
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
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- 2021
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- journal article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
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- 2021
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- journal article
Selecting a polyclonal immune globulin treatment for a patient with primary immune deficiency disease: Role of the clinical pharmacist.
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- American Journal of Health-System Pharmacy, 2016, v. 73, n. 8, p. 533, doi. 10.2146/ajhp150320
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- Article
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
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- 2018
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- 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.
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- Journal of Pediatric Neurosciences, 2019, v. 14, n. 1, p. 20, doi. 10.4103/JPN.JPN_37_19
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- Article
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy.
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- 2016
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- Publication type:
- Case Study
Infantile Alexander disease: A rare leukodystrophy.
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- Journal of Pediatric Neurosciences, 2012, v. 7, n. 2, p. 117, doi. 10.4103/1817-1745.102573
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- Article
Megalencephalic leukoencephalopathy: van der Knaap disease.
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- European Journal of General Medicine, 2018, v. 15, n. 1, p. 47, doi. 10.29333/ejgm/81736
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- Article
Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies.
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- Neuroradiology, 2021, v. 63, n. 1, p. 153, doi. 10.1007/s00234-020-02543-4
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- Article
H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms.
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- Neuroradiology, 2013, v. 55, n. 8, p. 933, doi. 10.1007/s00234-013-1174-5
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- Article
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 433, doi. 10.1111/jns.12409
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- Article
HLA-DRB1* alleles genotyping in chronic inflammatory demyelinating polyneuropathy in Greek patients.
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- Journal of the Peripheral Nervous System, 2014, v. 19, n. 2, p. 187, doi. 10.1111/jns5.12061
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- Article
Malattie rare in pediatria e nucleo familiare: uno studio di caso.
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- Children's Nurses: Italian Journal of Pediatric Nursing Science / Infermieri dei Bambini: Giornale Italiano di Scienze Infermieristiche Pediatriche, 2012, v. 4, n. 4, p. 133
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- Article
Multiple Sclerosis - Like Demyelinating Lesions During Adalimumab Treatment in a Case with Crohn's Disease.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2022, v. 59, n. 4, p. 342, doi. 10.29399/npa.27973
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- Article
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
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- 2020
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- journal article
Pelizaeus- Merzbacher disease: Cellular pathogenesis and pharmacologic therapy.
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- Pediatrics International, 2014, v. 56, n. 5, p. 659, doi. 10.1111/ped.12450
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- Article
Canavan disease: Clinical features and recent advances in research.
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- Pediatrics International, 2014, v. 56, n. 4, p. 477, doi. 10.1111/ped.12422
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- Article
Tumoural transformation in Van der Knaap syndrome.
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- 2019
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- Publication type:
- Case Study
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
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- Clinical Case Reports, 2016, v. 4, n. 9, p. 885, doi. 10.1002/ccr3.655
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- Article