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Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.
- Published in:
- 1998
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- Publication type:
- journal article
Changes in terminal sprout formation in rat sternocostalis muscle during chronic intoxication with 2,5 hexanedione.
- Published in:
- 1984
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- Publication type:
- journal article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
- Published in:
- 2005
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- Publication type:
- journal article
Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 11, p. 1840, doi. 10.3390/cells11111840
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- Publication type:
- Article
Sarcoidosis and inclusion body myositis.
- Published in:
- 2008
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- Publication type:
- Letter
Cell proliferation and death: Morphological evidence during corticogenesis in the developing human brain.
- Published in:
- Microscopy Research & Technique, 1999, v. 45, n. 6, p. 341, doi. 10.1002/(SICI)1097-0029(19990615)45:6<341::AID-JEMT2>3.0.CO;2-U
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- Publication type:
- Article
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 123, doi. 10.1007/s10048-018-0538-8
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- Publication type:
- Article
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.
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- Neurogenetics, 2014, v. 15, n. 1, p. 41, doi. 10.1007/s10048-013-0381-x
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- Publication type:
- Article
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 151, doi. 10.1007/s10048-008-0159-8
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- Publication type:
- Article
Risk of psychosis in autism spectrum disorder individuals exposed to psychosocial stressors: A 9‐year chart review study.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2023, v. 16, n. 11, p. 2139, doi. 10.1002/aur.3042
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- Publication type:
- Article
Protein glutathionylation in human central nervous system: Potential role in redox regulation of neuronal defense against free radicals.
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- Journal of Neuroscience Research, 2006, v. 83, n. 2, p. 256, doi. 10.1002/jnr.20729
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- Publication type:
- Article
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
- Published in:
- 2021
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- Publication type:
- journal article
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
- Published in:
- 2019
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- Publication type:
- journal article
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean.
- Published in:
- Neurogenetics, 2006, v. 7, n. 2, p. 111, doi. 10.1007/s10048-005-0024-y
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- Publication type:
- Article
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
- Published in:
- 2011
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- Publication type:
- Letter
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
- Published in:
- Acta Neuropathologica, 2004, v. 108, n. 2, p. 168, doi. 10.1007/s00401-004-0872-9
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- Publication type:
- Article
MELAS: clinical phenotype and morphological brain abnormalities.
- Published in:
- Acta Neuropathologica, 2003, v. 106, n. 3, p. 202, doi. 10.1007/s00401-003-0716-z
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- Publication type:
- Article
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).
- Published in:
- Acta Neuropathologica, 2003, v. 106, n. 1, p. 57, doi. 10.1007/s00401-003-0698-x
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- Publication type:
- Article
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101792
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- Publication type:
- Article
The Principles of Administrative Procedure and the EU Courts: an Evolution in Progress?
- Published in:
- Review of European Administrative Law, 2011, v. 4, n. 1, p. 45, doi. 10.7590/REAL_2011_01_03
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- Publication type:
- Article
EEG and Granular Osmiophilic Elements in Early-Onset Alzheimer's Disease.
- Published in:
- Neurodegenerative Diseases, 2011, v. 8, n. 4, p. 259, doi. 10.1159/000322539
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- Publication type:
- Article
Corrigendum: PLA2G6, encoding a phospholipase A<sub>2</sub>, is mutated in neurodegenerative disorders with high brain iron.
- Published in:
- 2006
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- Publication type:
- Correction notice
PLA2G6, encoding a phospholipase A<sub>2</sub>, is mutated in neurodegenerative disorders with high brain iron.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 752, doi. 10.1038/ng1826
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- Publication type:
- Article
Effects of Cytoskeletal Neurotoxins on Axonal Growth.
- Published in:
- Human & Experimental Toxicology, 1989, v. 8, n. 2, p. 146, doi. 10.1177/096032718900800216
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- Publication type:
- Article
Etiology of hepatocellular carcinoma influences clinical and pathologic features but not patient survival
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2003, v. 98, n. 4, p. 907, doi. 10.1111/j.1572-0241.2003.t01-1-07289.x
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- Publication type:
- Article
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.
- Published in:
- 2016
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- Publication type:
- Letter
Effects of Isovolumetric Venesection on Blood Viscosity, on Red Cell Deformability, and on Arterial Flow Velocity in Chronic Respiratory Failure with Secondary Polycythemia.
- Published in:
- Respiration, 1981, v. 42, n. 3, p. 168, doi. 10.1159/000194424
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- Publication type:
- Article
Clinical, ultrastructural, and molecular studies in a patient with Kufs disease.
- Published in:
- 2014
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- Publication type:
- Letter
A novel missense mutation in the L1CAM gene in a boy with L1 disease.
- Published in:
- Neurological Sciences, 2006, v. 27, n. 2, p. 114, doi. 10.1007/s10072-006-0610-2
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- Publication type:
- Article
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48047-x
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- Publication type:
- Article
DNA fragmentation in normal development of the human central nervous system: a morphological study during corticogenesis.
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- Neuropathology & Applied Neurobiology, 1997, v. 23, n. 3, p. 203, doi. 10.1111/j.1365-2990.1997.tb01203.x
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- Publication type:
- Article
Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1083113
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- Publication type:
- Article
Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.811686
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- Publication type:
- Article
Corrigendum: The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
- Published in:
- 2002
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- Publication type:
- Erratum
The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 384, doi. 10.1038/ng1002
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- Publication type:
- Article
Formation and chemical evolution of SOA in two different environments: A dual chamber study.
- Published in:
- Atmospheric Chemistry & Physics Discussions, 2024, p. 1, doi. 10.5194/egusphere-2024-1317
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- Publication type:
- Article
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 8, p. 1024, doi. 10.3390/biom12081024
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- Publication type:
- Article
Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules.
- Published in:
- NeuroMolecular Medicine, 2016, v. 18, n. 1, p. 109, doi. 10.1007/s12017-015-8382-6
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- Publication type:
- Article
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-19
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- Publication type:
- Article
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
- Published in:
- 2013
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- Publication type:
- journal article
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
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- Publication type:
- Article
Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry.
- Published in:
- Journal of Mass Spectrometry, 2021, v. 56, n. 1, p. 1, doi. 10.1002/jms.4675
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- Publication type:
- Article
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 59, doi. 10.1111/j.1529-8027.2011.00319.x
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- Publication type:
- Article
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Dejerine-Sottas Neuropathy with Multiple Nerve Roots Enlargement and Hypomyelination Associated with a Missense Mutation of the Transmembrane Domain of MPZ/P0.
- Published in:
- Journal of the Peripheral Nervous System, 2003, v. 8, n. 2, p. 128, doi. 10.1046/j.1529-8027.2003.03016_7.x
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- Publication type:
- Article
CONGENITAL HYPOMYELINATION NEUROPATHY WITH A NOVEL MUTATION OF PMP22.
- Published in:
- Journal of the Peripheral Nervous System, 2000, v. 5, n. 1, p. 48, doi. 10.1046/j.1529-8027.2000.00513-51.x
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- Publication type:
- Article
Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients.
- Published in:
- Neurological Sciences, 2000, v. 21, p. S63, doi. 10.1007/s100720070042
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- Publication type:
- Article
Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients.
- Published in:
- 2000
- By:
- Publication type:
- journal article
MECP2 duplication phenotype in symptomatic females: report of three further cases.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-10
- By:
- Publication type:
- Article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975
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- Publication type:
- Article