Found: 163
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Autosomal Recessive Hereditary Motor and Sensory Neuropathy with Focally Folded Myelin Sheaths (CMT4B).
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 47, doi. 10.1111/j.1749-6632.1999.tb08566.x
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- Publication type:
- Article
Anti-N-methyl-D-aspartate-glutamic-receptor encephalitis presenting as paroxysmal exercise-induced foot weakness.
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- Movement Disorders, 2013, v. 28, n. 6, p. 820, doi. 10.1002/mds.25510
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- Publication type:
- Article
Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families.
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- Movement Disorders, 2012, v. 27, n. 3, p. 460, doi. 10.1002/mds.24027
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- Publication type:
- Article
Unilateral basal ganglia atrophy in a patient with tuberous sclerosis complex and hemichorea.
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- Movement Disorders, 2012, v. 27, n. 3, p. 458, doi. 10.1002/mds.24014
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- Publication type:
- Article
Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
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- Movement Disorders, 2006, v. 21, n. 2, p. 252, doi. 10.1002/mds.20681
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- Publication type:
- Article
The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease.
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- Movement Disorders, 2000, v. 15, n. 1, p. 120, doi. 10.1002/1531-8257(200001)15:1<120::AID-MDS1019>3.0.CO;2-S
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- Publication type:
- Article
Generalised epilepsy with febrile seizures plus (GEFS): molecular analysis in a restricted area.
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- Child's Nervous System, 2012, v. 28, n. 1, p. 141, doi. 10.1007/s00381-011-1592-9
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- Publication type:
- Article
Personality disorders in individuals with functional seizures: a systematic review.
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- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2024.1411189
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- Publication type:
- Article
Professional Acquisition of M. bovis in Calabria Region (Southern Italy): A Challenging Case of Osteomyelitis in a Migrant Patient from Bulgaria.
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- Case Reports in Infectious Diseases, 2015, v. 2015, p. 1, doi. 10.1155/2015/794715
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- Article
A possible case of natalizumab-dependent suicide attempt: A brief review about drugs and suicide.
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- Journal of Pharmacology & Pharmacotherapeutics, 2013, v. 4, n. 5, p. 90, doi. 10.4103/0976-500X.120974
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- Publication type:
- Article
Cardiac parasympathetic index identifies subjects with adult obstructive sleep apnea: A simultaneous polysomnographic-heart rate variability study.
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- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193879
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- Publication type:
- Article
Modulatory Proteins Can Rescue a Trafficking Defective Epileptogenic Na<sub>v</sub>1.1<sup>+</sup> Na Channel Mutant.
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- Journal of Neuroscience, 2007, v. 27, n. 41, p. 11037, doi. 10.1523/JNEUROSCI.3515-07.2007
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- Publication type:
- Article
Association between nutritional status and cognitive decline in non-institutionalized elderly patients evaluated in a geriatric outpatient setting.
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- Geriatric Care, 2023, v. 9, n. 1, p. 1, doi. 10.4081/gc.2023.11021
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- Publication type:
- Article
Rosacea-like facial rash related to metformin administration in a young woman.
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- BMC Pharmacology & Toxicology, 2014, v. 15, n. 1, p. 1, doi. 10.1186/2050-6511-15-3
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- Publication type:
- Article
Leber’s hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man.
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- Multiple Sclerosis Journal, 2011, v. 17, n. 6, p. 763, doi. 10.1177/1352458511404033
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- Publication type:
- Article
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
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- Human Molecular Genetics, 2012, v. 21, n. 24, p. 5359
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- Publication type:
- Article
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
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- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00269
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- Publication type:
- Article
Listeria infection after treatment with alemtuzumab: a case report and literature review. Would antibiotic prophylaxis be considered?
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- Infezioni in Medicina, 2020, v. 28, n. 2, p. 258
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- Article
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy.
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- 2022
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- Publication type:
- journal article
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission.
- Published in:
- 2020
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- Publication type:
- journal article
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
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- 2019
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- Publication type:
- journal article
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.
- Published in:
- 2018
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- Publication type:
- journal article
Comparison between Electrocardiographic and Earlobe Pulse Photoplethysmographic Detection for Evaluating Heart Rate Variability in Healthy Subjects in Short- and Long-Term Recordings.
- Published in:
- Sensors (14248220), 2018, v. 18, n. 3, p. 844, doi. 10.3390/s18030844
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- Publication type:
- Article
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
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- Annals of Neurology, 2023, v. 94, n. 5, p. 825, doi. 10.1002/ana.26765
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- Publication type:
- Article
Postictal Psychosis in Epilepsy: A Clinicogenetic Study.
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- Annals of Neurology, 2021, v. 90, n. 3, p. 464, doi. 10.1002/ana.26174
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- Publication type:
- Article
Non-Coding RNAs: New Biomarkers and Therapeutic Targets for Temporal Lobe Epilepsy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3063, doi. 10.3390/ijms23063063
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- Publication type:
- Article
Circulating microRNAs as Potential Novel Diagnostic Biomarkers to Predict Drug Resistance in Temporal Lobe Epilepsy: A Pilot Study.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 702, doi. 10.3390/ijms22020702
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- Publication type:
- Article
Abdominal Fat SIRT6 Expression and Its Relationship with Inflammatory and Metabolic Pathways in Pre-Diabetic Overweight Patients.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 5, p. 1153, doi. 10.3390/ijms20051153
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- Publication type:
- Article
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
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- Child's Nervous System, 2011, v. 27, n. 4, p. 635, doi. 10.1007/s00381-010-1282-z
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- Publication type:
- Article
Modulation of GABAergic dysfunction due to SCN1A mutation linked to Hippocampal Sclerosis.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1726, doi. 10.1002/acn3.51150
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- Publication type:
- Article
A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 855, doi. 10.1002/acn3.51040
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- Publication type:
- Article
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 821, doi. 10.1002/acn3.224
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- Publication type:
- Article
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00514
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- Publication type:
- Article
ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy.
- Published in:
- Epilepsy Research & Treatment, 2011, p. 1, doi. 10.1155/2011/258365
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- Publication type:
- Article
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.
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- 2024
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- Publication type:
- Case Study
Development and Validation of Machine-Learning Models to Support Clinical Diagnosis for Non-Epileptic Psychogenic Seizures.
- Published in:
- Applied Sciences (2076-3417), 2023, v. 13, n. 12, p. 6924, doi. 10.3390/app13126924
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- Publication type:
- Article
Profile of brivaracetam and its potential in the treatment of epilepsy.
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- Neuropsychiatric Disease & Treatment, 2015, v. 11, p. 2967, doi. 10.2147/NDT.S60849
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- Publication type:
- Article
Deep Learning Representation from Electroencephalography of Early-Stage Creutzfeldt-Jakob Disease and Features for Differentiation from Rapidly Progressive Dementia.
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- International Journal of Neural Systems, 2017, v. 27, n. 2, p. -1, doi. 10.1142/S0129065716500398
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- Publication type:
- Article
A Functional Genetic Variation of the 5-HTR2A Receptor Affects Age at Onset in Patients with Temporal Lobe Epilepsy.
- Published in:
- Annals of Human Genetics, 2012, v. 76, n. 4, p. 277, doi. 10.1111/j.1469-1809.2012.00713.x
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- Publication type:
- Article
Presenilin enhancer-2 gene: Identification of a novel promoter mutation in a patient with early-onset familial Alzheimer’s disease
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2011, v. 7, n. 6, p. 574, doi. 10.1016/j.jalz.2011.02.010
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- Publication type:
- Article
Identification of three novel progranulin mutations in a series of patients affected by sporadic and familial frontotemporal lobar degeneration
- Published in:
- 2009
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- Publication type:
- Abstract
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 3, p. 1224, doi. 10.3390/ijerph19031224
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- Publication type:
- Article
Natalizumab wearing-off symptoms: effect of extend interval dosing during Sars-CoV-2 pandemic.
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- Journal of Neurology, 2023, v. 270, n. 2, p. 595, doi. 10.1007/s00415-022-11408-0
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- Publication type:
- Article
The one-and-a-half syndrome: a distinctive clinical finding in a patient with multiple sclerosis.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 9, p. 3331, doi. 10.1007/s10072-023-06805-w
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- Publication type:
- Article
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.
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- Neurological Sciences, 2023, v. 44, n. 4, p. 1393, doi. 10.1007/s10072-022-06541-7
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- Publication type:
- Article
Babylonian knowledge about temporal lobe epilepsy: distinguishing mesial from lateral forms.
- Published in:
- 2022
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- Publication type:
- journal article
Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 9, p. 5229, doi. 10.1007/s10072-022-06148-y
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- Publication type:
- Article
Incidental evidence of hypointensity in brain grey nuclei on routine MR imaging: when to suspect a neurodegenerative disorder?
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- Neurological Sciences, 2022, v. 43, n. 1, p. 643, doi. 10.1007/s10072-021-05292-1
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- Publication type:
- Article
Guillain-Barré syndrome following BNT162b2 COVID-19 vaccine.
- Published in:
- 2021
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- Publication type:
- Letter
Opicapone-induced reversible myopathy in a patient with advanced Parkinson's disease and familial hyperCKemia.
- Published in:
- 2021
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- Publication type:
- Letter