cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.5281/zenodo.4555222
title: Data related to article "Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model"

description: The database contains the data of ferrozine assay for brain iron quantification, the data of in vivo characterization, and all the unedited blot images used in the publication indicated in the title line
description: Founder: Ministero della Salute (IT) - GR-2018-12365610
DOI: 10.15468/fsudf7
title: First record of the leafhopper tribe Adelungiini Baker (Hemiptera, Auchenorrhyncha, Cicadellidae: Megophthalminae) from Turkey, with notes on Achrus albicosta (Kusnezov, 1929)

description: This dataset contains the digitized treatments in Plazi based on the original journal article Gnezdilov, Vladimir M., Özgen, Inanç, Emeljanov, Alexandr F., Neimorovets, Vladimir V. (2021): First record of the leafhopper tribe Adelungiini Baker (Hemiptera, Auchenorrhyncha, Cicadellidae: Megophthalminae) from Turkey, with notes on Achrus albicosta (Kusnezov, 1929). Zootaxa 4950 (3): 580-588, DOI: https://doi.org/10.11646/zootaxa.4950.3.10
DOI: 10.5281/zenodo.4670518
title: data related to article "Kir4.1 RNA interference by in utero electroporation fails to affect ictogenesis and reveals a possible role of Kir4.1 in corticogenesis"

description: Seizures recording and assessment of extracellular potassium changes on rat slices in which Kir4.1 channel inhibition in cerebral cortex astrocytes was performed during embryonic development by RNA interference associated with in utero electroporation
description: Work supported by research grant AICE-FIRE[(Associazione Italiana Contro l'Epilessia andFondazione Italiana per la Ricerca sull'Epilessia) grantnumber 745, 2017]; and by the Italian Ministry of Health(grant number RC LR1, 2019).
DOI: 10.5281/zenodo.4670517
title: data related to article "Kir4.1 RNA interference by in utero electroporation fails to affect ictogenesis and reveals a possible role of Kir4.1 in corticogenesis"

description: Seizures recording and assessment of extracellular potassium changes on rat slices in which Kir4.1 channel inhibition in cerebral cortex astrocytes was performed during embryonic development by RNA interference associated with in utero electroporation
description: Work supported by research grant AICE-FIRE[(Associazione Italiana Contro l'Epilessia andFondazione Italiana per la Ricerca sull'Epilessia) grantnumber 745, 2017]; and by the Italian Ministry of Health(grant number RC LR1, 2019).
DOI: 10.5281/zenodo.4647813
title: Data related to article "PGE2 is crucial for the generation of FAST whole-tumor-antigens loaded Dendritic Cells suitable for immunotherapy in Glioblastoma"

description: Dataset containing RAW DATA describing the elaboration of a Fast-DC method in compliance with good manufacturing practices for the production of autologous mature dendritic cells loaded with antigens derived from whole tumor lysate, suitable for the immunotherapy in glioblastoma patients. The feasibility of generating Fast-DC pulsed with whole tumor lysate was assessed using a series of small-scale cultures performed in parallel with clinical grade large scale standard method preparations
description: This study was co-funded by Italian Ministry of Health
DOI: 10.5281/zenodo.4647812
title: Data related to article "PGE2 is crucial for the generation of FAST whole-tumor-antigens loaded Dendritic Cells suitable for immunotherapy in Glioblastoma"

description: Dataset containing RAW DATA describing the elaboration of a Fast-DC method in compliance with good manufacturing practices for the production of autologous mature dendritic cells loaded with antigens derived from whole tumor lysate, suitable for the immunotherapy in glioblastoma patients. The feasibility of generating Fast-DC pulsed with whole tumor lysate was assessed using a series of small-scale cultures performed in parallel with clinical grade large scale standard method preparations
description: This study was co-funded by Italian Ministry of Health
DOI: 10.5281/zenodo.4633121
title: data related to article "Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary Optic Neuropathy (LHON)"

description: genetic analysis related to article "Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber’s Hereditary Optic Neuropathy (LHON)"
description: Study supported by: Italian Ministry of Health (Ricerca Finalizzata Grant: RF-2018-12366703) and MITOCON (Italian association for the study and treatment of Mithocondrial Diseases (Grant no. 2018-01)
DOI: 10.5281/zenodo.4633120
title: data related to article "Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary Optic Neuropathy (LHON)"

description: genetic analysis related to article "Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber’s Hereditary Optic Neuropathy (LHON)"
description: Study supported by: Italian Ministry of Health (Ricerca Finalizzata Grant: RF-2018-12366703) and MITOCON (Italian association for the study and treatment of Mithocondrial Diseases (Grant no. 2018-01)
DOI: 10.15468/gdmjqj
title: New records of fleas and ticks in armadillos (Xenarthra: Chlamyphoridae) from the Espinal and Monte ecoregions of La Pampa province, Argentina

description: This dataset contains the digitized treatments in Plazi based on the original journal article Ezquiaga, María Cecilia, Soibelzon, Esteban (2021): New records of fleas and ticks in armadillos (Xenarthra: Chlamyphoridae) from the Espinal and Monte ecoregions of La Pampa province, Argentina. Zootaxa 4950 (3): 595-600, DOI: https://doi.org/10.11646/zootaxa.4950.3.12
DOI: 10.5281/zenodo.4651163
title: Data related to article "ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy"

description: Functional studies in a yeast model and patient-derived fibroblast cell lines
description: Study supported by Italian Ministry of Health: Grant: RF-2011-02351 165 and RF-2018 -12367768 (P.I. Franco Taroni) ,and GR-2016-0 2363337 (P.I. Stefania Magri)
DOI: 10.5281/zenodo.4651162
title: Data related to article "ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy"

description: Functional studies in a yeast model and patient-derived fibroblast cell lines
description: Study supported by Italian Ministry of Health: Grant: RF-2011-02351 165 and RF-2018 -12367768 (P.I. Franco Taroni) ,and GR-2016-0 2363337 (P.I. Stefania Magri)
DOI: 10.5281/zenodo.4656006
title: Data related to article "Cognitive reserve is associated with altered clinical expression in amyotrophic lateral sclerosis"

description: The Dataset “Consonni_2020_ALSFTD” contains demographical, neuropsychological and clinical data of a sample of patients with Amyotrophic Lateral Sclerosis
description: Study Supported by Fondazione Regionale per la Ricerca Biomedica, Regione Lombardia (TRANS-ALS; grant number: 2015-0023)
DOI: 10.5281/zenodo.4656005
title: Data related to article "Cognitive reserve is associated with altered clinical expression in amyotrophic lateral sclerosis"

description: The Dataset “Consonni_2020_ALSFTD” contains demographical, neuropsychological and clinical data of a sample of patients with Amyotrophic Lateral Sclerosis
description: Study Supported by Fondazione Regionale per la Ricerca Biomedica, Regione Lombardia (TRANS-ALS; grant number: 2015-0023)
DOI: 10.15468/zwpbab
title: A New Species Of Larval Leptus (Parasitengona: Erythraeidae) And New Records Of Larval Erythraeidae Parasitizing Orthoptera From French Guiana

description: This dataset contains the digitized treatments in Plazi based on the original journal article Mayoral, J. G., Barranco, P. (2011): A New Species Of Larval Leptus (Parasitengona: Erythraeidae) And New Records Of Larval Erythraeidae Parasitizing Orthoptera From French Guiana. Acarologia 51 (4): 411-417, DOI: 10.1051/acarologia/20112023, URL: http://dx.doi.org/10.1051/acarologia/20112023
DOI: 10.5281/zenodo.4643758
title: Data related to article "The first case of the TARDBP p.G294V mutation in a homozygous state is a single pathogenic allele sufficient to cause ALS"

description: Description of the first ALS patient presenting the c.881G&gt;T p.G294V TARDBP mutation in homozygous status, collection of a series of heterozygous Italian ALS patients and characterization of the haplotype context of this mutation.
description: STUDY SUPPORTED BY: Fondazione Regionale per la Ricerca Biomedica (Regione Lombardia, Grant FRRB 2015-0023 ) and the Italian Ministry of Health (Grant RF 2013-02355764).
DOI: 10.5281/zenodo.4643757
title: Data related to article "The first case of the TARDBP p.G294V mutation in a homozygous state is a single pathogenic allele sufficient to cause ALS"

description: Description of the first ALS patient presenting the c.881G&gt;T p.G294V TARDBP mutation in homozygous status, collection of a series of heterozygous Italian ALS patients and characterization of the haplotype context of this mutation.
description: STUDY SUPPORTED BY: Fondazione Regionale per la Ricerca Biomedica (Regione Lombardia, Grant FRRB 2015-0023 ) and the Italian Ministry of Health (Grant RF 2013-02355764).
DOI: 10.5281/zenodo.4670361
title: Data related to article "Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPed"

description: The dataset contains anonymized diagnosis and CMTpedS administration information on CMT patients evaluated at Fondazione Besta and included in the related article
DOI: 10.5281/zenodo.4670360
title: Data related to article "Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPed"

description: The dataset contains anonymized diagnosis and CMTpedS administration information on CMT patients evaluated at Fondazione Besta and included in the related article
DOI: 10.5281/zenodo.4665440
title: Data related to article "Anakinra usage in febrile infection related epilepsy syndrome: an international cohort"

description: The dataset contains anonymized clinical information on a patient treated with Anakinra FIRES examined at Fondazione Besta and included in the study described in the related article.
DOI: 10.5281/zenodo.4665439
title: Data related to article "Anakinra usage in febrile infection related epilepsy syndrome: an international cohort"

description: The dataset contains anonymized clinical information on a patient treated with Anakinra FIRES examined at Fondazione Besta and included in the study described in the related article.
DOI: 10.5281/zenodo.4651245
title: Data related to article "RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum"

description: Next Generation Sequencing data of leukodystrophy gene panel analysis and segregation study data
description: Sudy supported by Italian Ministry of Health. Grant Numbers: GR2016_02363337, RF2016_02361285
DOI: 10.5281/zenodo.4651244
title: Data related to article "RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum"

description: Next Generation Sequencing data of leukodystrophy gene panel analysis and segregation study data
description: Sudy supported by Italian Ministry of Health. Grant Numbers: GR2016_02363337, RF2016_02361285
DOI: 10.5281/zenodo.4694341
title: Gluten 2020

description: Gluten analysis in various matrices.
DOI: 10.5281/zenodo.4694340
title: Gluten 2020

description: Gluten analysis in various matrices.
DOI: 10.5281/zenodo.4557818
title: Data related to article"Dendritic pathology, spine loss and synaptic reorganization in human cortex from epilepsy patients"

description: Raw data of morphometric counts
description: Study Supported by Italian Ministry of Health - Grant RF-2016-02362195 "Combined electroclinical and morpho-functional analysis for the identification, definition, and surgical removal of the human epileptogenic zone in drug-resistant patients"
DOI: 10.5281/zenodo.4557817
title: Data related to article"Dendritic pathology, spine loss and synaptic reorganization in human cortex from epilepsy patients"

description: Raw data of morphometric counts
description: Study Supported by Italian Ministry of Health - Grant RF-2016-02362195 "Combined electroclinical and morpho-functional analysis for the identification, definition, and surgical removal of the human epileptogenic zone in drug-resistant patients"
DOI: 10.5281/zenodo.4670326
title: Data related to article "Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study"

description: This dataset include clinical and genetic raw data on patients referred to one of the centers participating at the international multicentre study described in the related article<strong> </strong>(Fondazione IRCCS Istituto Neurologico Carlo Besta)
DOI: 10.5281/zenodo.4670325
title: Data related to article "Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study"

description: This dataset include clinical and genetic raw data on patients referred to one of the centers participating at the international multicentre study described in the related article<strong> </strong>(Fondazione IRCCS Istituto Neurologico Carlo Besta)
DOI: 10.5281/zenodo.4689173
title: Data related to article "High tumor mutational burden and T-cell activation are associated with long-term response to anti-PD1 therapy in Lynch syndrome recurrent glioblastoma patient"

description: dataset contains raw data of flow cytometry and MRI documenting the article at title
description: Study supported by Italian Ministry of Health (RC)
DOI: 10.5281/zenodo.4689172
title: Data related to article "High tumor mutational burden and T-cell activation are associated with long-term response to anti-PD1 therapy in Lynch syndrome recurrent glioblastoma patient"

description: dataset contains raw data of flow cytometry and MRI documenting the article at title
description: Study supported by Italian Ministry of Health (RC)
DOI: 10.5281/zenodo.4688777
title: Data related to article "Identifying the epileptogenic zone by four non-invasive imaging techniques versus stereo-EEG in MRI-negative pre-surgery epilepsy patients"

description: Extended Clinical database documenting the study described in the article at title
description: Study supported by: • DESIRE (Strategies for Innovative Research to Improve Diagnosis, Prevention and Treatment in children with difficult to treat epilepsy), a FP7 funded project (Grant Agreement no: 602531), from European Commission • grant RF-2011-02350578 from Italian Ministry of Health • grant RF-2010-2319316 from Italian Ministry of Health
DOI: 10.5281/zenodo.4688776
title: Data related to article "Identifying the epileptogenic zone by four non-invasive imaging techniques versus stereo-EEG in MRI-negative pre-surgery epilepsy patients"

description: Extended Clinical database documenting the study described in the article at title
description: Study supported by: • DESIRE (Strategies for Innovative Research to Improve Diagnosis, Prevention and Treatment in children with difficult to treat epilepsy), a FP7 funded project (Grant Agreement no: 602531), from European Commission • grant RF-2011-02350578 from Italian Ministry of Health • grant RF-2010-2319316 from Italian Ministry of Health
DOI: 10.6084/m9.figshare.14423660
title: Data extract

description: Data extract for the systematic review, includes data items and quality appraisal assessment<br>
DOI: 10.5281/zenodo.4656041
title: Data related to article "Cortical thinning trajectories across disease stages and cognitive impairment in amyotrophic lateral sclerosis"

description: The Dataset “Consonni_2020_Cortex” contains demographical, neuropsychological and clinical data of a sample of patients with Amyotrophic Lateral Sclerosis and a group of healthy volunteers. Dataset includes also measures of the cortical thickness of different brain areas of enrolled participants
description: Study Supported by Study Supported by Fondazione Regionale per la Ricerca Biomedica, Regione Lombardia (TRANS-ALS; grant number: 2015-0023).
DOI: 10.5281/zenodo.4656040
title: Data related to article "Cortical thinning trajectories across disease stages and cognitive impairment in amyotrophic lateral sclerosis"

description: The Dataset “Consonni_2020_Cortex” contains demographical, neuropsychological and clinical data of a sample of patients with Amyotrophic Lateral Sclerosis and a group of healthy volunteers. Dataset includes also measures of the cortical thickness of different brain areas of enrolled participants
description: Study Supported by Study Supported by Fondazione Regionale per la Ricerca Biomedica, Regione Lombardia (TRANS-ALS; grant number: 2015-0023).
DOI: 10.5281/zenodo.4674515
title: Data related to article "Cytokine profile in striated muscle laminopathies: new promising biomarkers for disease prediction"

description: This database includes a comprehensive profile of circulating pro- and anti-inflammatory molecules (cytokines, chemokines and growth factors) obtained from a group of 53 patients with muscular laminopathy, 10 with non-muscular laminopathy, 22 with other muscular disorders and 35 healthy controls. Data obtained by Luminex multiple immune-assay identify TGF-2, IL-17 and G-CSF as potential biomarkers in discriminating between muscle-related laminopathy and healthy subjects. The different expression of IL-1, IL-4 and IL-8 among the different forms of laminopathy provides a new hint for the understanding of the pathogenic mechanisms underlying the diverse phenotypes caused by LMNA mutations.
description: Study supported by Italian Ministry of Health, years 2018-2020 (annual research funding); AIProSaB grants 02/2013 and 03/2016; AIDMED onlus grant 17/2015, Associazione Alessandra Proietti onlus IGM prot. 0002041
DOI: 10.5281/zenodo.4674514
title: Data related to article "Cytokine profile in striated muscle laminopathies: new promising biomarkers for disease prediction"

description: This database includes a comprehensive profile of circulating pro- and anti-inflammatory molecules (cytokines, chemokines and growth factors) obtained from a group of 53 patients with muscular laminopathy, 10 with non-muscular laminopathy, 22 with other muscular disorders and 35 healthy controls. Data obtained by Luminex multiple immune-assay identify TGF-2, IL-17 and G-CSF as potential biomarkers in discriminating between muscle-related laminopathy and healthy subjects. The different expression of IL-1, IL-4 and IL-8 among the different forms of laminopathy provides a new hint for the understanding of the pathogenic mechanisms underlying the diverse phenotypes caused by LMNA mutations.
description: Study supported by Italian Ministry of Health, years 2018-2020 (annual research funding); AIProSaB grants 02/2013 and 03/2016; AIDMED onlus grant 17/2015, Associazione Alessandra Proietti onlus IGM prot. 0002041
DOI: 10.5281/zenodo.4633869
title: Data related to article ": Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene"

description: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We report on 14 additional patients and compare their phenotypic features to previously published patients to identify the clinical hallmarks of this disorder
description: Study supported by Italian Ministry of Health - Program GR-2016-02363337
DOI: 10.5281/zenodo.4633868
title: Data related to article ": Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene"

description: Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We report on 14 additional patients and compare their phenotypic features to previously published patients to identify the clinical hallmarks of this disorder
description: Study supported by Italian Ministry of Health - Program GR-2016-02363337
DOI: 10.6084/m9.figshare.14423681
title: PRISMA checklist

description: PRISMA checklist.<br>
DOI: 10.6084/m9.figshare.14423681.v1
title: PRISMA checklist

description: PRISMA checklist.<br>
DOI: 10.5281/zenodo.4557834
title: data related to article "pCREB expression in human tissues from epilepsy surgery"

description: Raw data of morphometric counts
description: Study Supported by Italian Ministry of Health - Grant RF-2016-02362195 "Combined electroclinical and morpho-functional analysis for the identification, definition, and surgical removal of the human epileptogenic zone in drug-resistant patients"
DOI: 10.5281/zenodo.4557833
title: data related to article "pCREB expression in human tissues from epilepsy surgery"

description: Raw data of morphometric counts
description: Study Supported by Italian Ministry of Health - Grant RF-2016-02362195 "Combined electroclinical and morpho-functional analysis for the identification, definition, and surgical removal of the human epileptogenic zone in drug-resistant patients"
DOI: 10.5281/zenodo.4665636
title: data related to "FDG-PET assessment and metabolic patterns in Lafora disease"

description: Datasets includes anonymized clinical information on a patient with genetically confirmed LD who underwent FDG-PET scan and was referred to Fondazione Besta
DOI: 10.5281/zenodo.4665635
title: data related to "FDG-PET assessment and metabolic patterns in Lafora disease"

description: Datasets includes anonymized clinical information on a patient with genetically confirmed LD who underwent FDG-PET scan and was referred to Fondazione Besta
DOI: 10.5281/zenodo.4633826
title: Data related to article"Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients"

description: We describe a comprehensive clinical, neuroradiological, ophthalmological, and electrophysiological history of four unrelated patients affected by type 1 sialidosis. The long-term care and novel clinical and neuroradiological insights are discussed. <em>Discussion and conclusions</em>: We report the longest follow-up (up to 30 years) ever described in patients with type 1 sialidosis. During the course, we observed a high degree of motor and speech disability with preserved cognitive functions. Among the newest antiseizure medication, perampanel (PER) was proven to be effective in controlling myoclonus and tonic-clonic seizures, confirming it is a valid therapeutic option for these patients. Brain magnetic resonance imaging (MRI) disclosed new findings, including bilateral gliosis of cerebellar folia and of the occipital white matter. In addition, a newly reported variant (c.914G &gt; A) is described.
description: study supported by Istanbul University Research Fund TOA-2019-33450.
DOI: 10.5281/zenodo.4633825
title: Data related to article"Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients"

description: We describe a comprehensive clinical, neuroradiological, ophthalmological, and electrophysiological history of four unrelated patients affected by type 1 sialidosis. The long-term care and novel clinical and neuroradiological insights are discussed. <em>Discussion and conclusions</em>: We report the longest follow-up (up to 30 years) ever described in patients with type 1 sialidosis. During the course, we observed a high degree of motor and speech disability with preserved cognitive functions. Among the newest antiseizure medication, perampanel (PER) was proven to be effective in controlling myoclonus and tonic-clonic seizures, confirming it is a valid therapeutic option for these patients. Brain magnetic resonance imaging (MRI) disclosed new findings, including bilateral gliosis of cerebellar folia and of the occipital white matter. In addition, a newly reported variant (c.914G &gt; A) is described.
description: study supported by Istanbul University Research Fund TOA-2019-33450.