| Nome |
# |
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Human Herpes Virus 7-related encephalopathy in children, file bcf39fd7-5a1f-42fd-a538-f7bb929b0cd4
|
530
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Cyclic Vomiting Syndrome in Children, file b496673c-f280-4ebe-b861-0c856b0c8b5f
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284
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Advanced pharmacological therapies for neurofibromatosis type 1-related tumors, file 00ee8dad-d108-4177-849d-a3c5f68a37d8
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233
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders, file e2f56ed8-a39e-3eaf-e053-3a05fe0a5d97
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107
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Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications, file fd6cedff-7139-4286-af2d-d50b81b5db08
|
50
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Gonosomal mosaicism for a novel col5a1 pathogenic variant in classic ehlers-danlos syndrome, file 123810ff-aa9d-45fa-9c80-9b2b91122297
|
49
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Potential roads for reaching the summit: an overview on target therapies for high-grade gliomas, file 6da08226-e078-4450-88d1-fdb51825542c
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37
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Gene therapies for high-grade gliomas: From the bench to the bedside, file 979dc3c0-2c8b-481e-975b-e0cedc853d36
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31
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Pai syndrome: a review, file 468e828a-952e-497c-ad09-846b173893e3
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28
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Targeting the medulloblastoma: A molecular-based approach, file 7aaf9fa2-0a66-4701-b5b7-e1ee08cb277b
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25
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Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP), file 5cdcffbf-50ff-43ae-81d2-18c0b894eb92
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23
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Acneiform rash as a side effect of selumetinib in a child with neurofibromatosis type 1 treated for inoperable plexiform neurofibromas: Good results with doxycycline, file f2f7ddc1-7d83-44fa-aca4-22c659b3cf82
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22
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Innovative therapies for malignant brain tumors: the road to a tailored cure, file 22f9accb-f7f4-41ab-8168-fcd377df4aff
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21
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants, file c8aa8cf1-2773-4d7d-977e-4b31abbd6ad1
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19
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Melkersson–rosenthal syndrome in childhood: Report of three paediatric cases and a review of the literature, file 6cafd7f0-3b47-4141-8a87-58907528e50d
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15
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Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort, file 25c2a34a-537a-4db6-a8fd-3059ed6a9d55
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12
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment, file 6672d900-f5fe-4ee3-953d-ca9988ddd8af
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12
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The Impact of the COVID-19 Epidemic During the Lockdown on Children With the Pediatric Acute-Onset Neuropsychiatric Syndrome (PANDAS/PANS): The Importance of Environmental Factors on Clinical Conditions, file e2f56eda-3b40-3eaf-e053-3a05fe0a5d97
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11
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The impact of stem cells in neuro-oncology: applications, evidence, limitations and challenges, file c137085d-b545-437b-8ed0-3fd19906fa02
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10
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Pulmonary Tuberculosis in Children: A Forgotten Disease?, file fc65614a-c3c9-4705-bdc0-de10c490dc17
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10
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination, file d22cc1f7-5967-499b-8dbc-8ba3e0cd348a
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9
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Indagine epidemiologica sul contenuto di xenobiotici nel latte materno, file 4cb1d8ec-995b-48cf-a19c-89fa71001a28
|
8
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Mowat-Wilson syndrome: growth charts, file f5e179fa-7673-47d3-af85-916c45861cdd
|
8
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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification, file 504c2ed0-9b1d-4f50-ad5d-0348a6c2ca58
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7
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Understanding Childhood Neuroimmune Diseases of the Central Nervous System, file c18fb0d1-1587-489d-a541-7b0a63deeffd
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7
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An Overview of The Role of Tumor Necrosis Factor-Alpha in Epileptogenesis and Its Terapeutic Implications, file 0f120f52-ac03-4406-a96c-dc4d2f653c36
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6
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Lower airway microbiota, file 8af35f0c-fc05-4686-b07c-f4b1b6f66335
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6
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Abdominal pain as first manifestation of lyme neuroborreliosis in children, case report and review of literature, file 97ebda42-a2f2-47bf-beb0-f96895e7977e
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6
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Problemi della nutrizione in pazienti con patologia cronica, file c22da8fd-6e4c-4c15-98cd-70f17bcda579
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6
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Adoptive immunotherapies in neuro-oncology: classification, recent advances, and translational challenges, file 1e4aa33c-e023-4194-9bfa-e5c923c8d672
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5
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Cell-based assays for the detection of MOG antibodies: a comparative study, file 795bd862-721e-4f9d-a895-af30f5158c2f
|
5
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|
Post-traumatic stress, anxiety, and depressive symptoms in caregivers of children tested for COVID-19 in the acute phase of the Italian outbreak, file 9f1d0ea3-0e74-420d-8c64-84c228f0b987
|
5
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Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study, file d6974dfe-cc32-49cc-ab9c-03492ed72d11
|
5
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Human Herpesvirus 6 Encephalitis in Immunocompetent and Immunocompromised Hosts, file e33f2414-95a7-4fad-80bd-83a808edccbf
|
5
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Deficiency of phosphofructokinase in a myopatic child, file 49b1eb28-c260-4eeb-a231-a1c487a6b361
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4
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Headache in progressive facial hemiatrophy (Parry-Romberg syndrome): A paradigmatic case and systematic review of the literature, file 4a518f91-029b-4df4-80e7-c7497781e4dd
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4
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Deficit di citocromo c ossidasi in un neonato con sindrome di Leigh, file 4b22e896-f431-4d7a-a83e-a30a172c3b10
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4
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Congenital lactic acidosis with PDHc deficiency in two siblings affected by respiratory distress in the first life, file 2ee2cd02-f518-4b94-9953-002a1d82268a
|
3
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Sincopi e lipotimie, file 373b4d34-b27b-40d1-8ed0-b6182c09fc80
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3
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Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham’s Chorea: A Multicenter Prospective Study, file 3e3e4d09-312c-4e88-b082-17eb8839a6ea
|
3
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Ehlers-Danlos Syndromes, file 474ad289-2ca2-45ca-a8d4-0dcce0db7ab3
|
3
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The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome, file 619b7647-40b1-4057-94fa-dcf9c8885846
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3
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Seizures in fetal alcohol spectrum disorders: Evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series, file 702dfe4d-db96-4fa8-91a3-03ad1e505ea5
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3
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Acute ataxia in paediatric emergency departments: a multicentre Italian study, file 70d5b9c1-167a-4ee8-a399-76ec4d83e96a
|
3
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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation, file 76f72254-e51f-4a11-b170-c3bf7c0849ef
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3
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Esame obiettivo neurologico nel bambino, file 85b13991-5aac-48c0-a9ee-3a7af154ed9e
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3
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Malformazioni Cavernose Intramidollari in età pediatrica: Descrizione di un caso clinico, file 95b23151-6839-4d3d-a88a-a65f4fc8b7f8
|
3
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|
Melnick-Needles Syndrome, file a2e842c4-0f1e-42c4-9e88-d77e0725bc72
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3
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Sindrome di Borjeson-Forssman- Lehman: descrizione di due casi, file e182197f-57db-40ae-98a1-611896b58b72
|
3
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Transient symptomatic zinc deficiency in a breast-fed African infant: case report and literature review, file fdc0a978-5693-4807-b210-7314a161fdcd
|
3
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Broncopolmoniti recidivanti da anomalie dell’epitelio ciliare in una bambina di otto
anni., file 084d0b46-1096-4792-b3e2-47878efc6511
|
2
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Screening ecografico postnatale apparato urinario: esperienza di Cremona, file 0f260137-5097-4a7c-9b67-ba081928d9eb
|
2
|
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The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome, file 161c2dea-afe9-446c-a0c3-8a386aa62de2
|
2
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Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument, file 1712da54-d8c0-4706-91c1-7e5eb85c7a94
|
2
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Aspetti EEG precoci nella sindrome di Angelman, file 1bd22fef-c463-43c2-a927-24436480e96f
|
2
|
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Challenges and management of neurological and psychiatric manifestations in SARS-CoV-2 (COVID-19) patients, file 2608a767-dcba-4cb9-b9c9-741fc52ddb4e
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2
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Convulsioni neonatali benigne familiari da mutazione di KCQN2, file 289a78f3-c945-43cb-bb1a-a58340f48584
|
2
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L’attività del gruppo italiano di studio della neurofibromatosi, file 31ae9d09-f160-41c3-89d8-94df3c96951f
|
2
|
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Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment, file 33342105-8d31-4f6e-ab05-3e0d78782168
|
2
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The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome, file 4fc3be6b-1c92-4bbc-97ad-ec76aa6100da
|
2
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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy, file 521f1bb7-0ee1-4746-9a79-cc72a87ff509
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2
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Malattia di Hallevorden-Spatz in una bambina di 11 anni considerazioni diagnostiche e terapeutiche, file 5c56b503-f90a-4264-9988-c5747acd877b
|
2
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The role of inflammatory mediators in epilepsy: Focus on developmental and epileptic encephalopathies and therapeutic implications, file 7e71a078-a7f8-44b4-ba8b-3d28554eb163
|
2
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Seizures and myelin oligodendrocyte glycoprotein (MOG) antibodies: Two paradigmatic cases and a review of the literature, file 87a18c1c-304a-4fec-a222-f78e76e77a9b
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2
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|
Impact of novel coronavirus Disease-19 (COVID-19) pandemic in Italian pediatric emergency departments: a national survey, file 9d0f47a5-0e46-4658-b1cb-086180ada38c
|
2
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Novel FAM126A mutations in hypomyelination and congenital cataract disease, file 9fb7338f-d595-4338-a587-7c1d1869d521
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2
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|
Crisi convulsive ed epilessia nella Sindrome di Sotos: Presentazione di una Casistica, file a02be447-5f53-4408-b22c-5d246bcf4408
|
2
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|
Galattosialidosi: forma congenita con anasarca, file a6a3b8db-a95f-40d7-88ce-0e0937d315bd
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2
|
|
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study, file aaeb4ab7-67a1-4025-a051-69482c97e5c4
|
2
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Malattia di Moya-Moya in un bambino di 20 mesi con Iper IgE liquorali, file bcc5cf90-7996-495f-acbc-ad796b6343f5
|
2
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|
Lacosamide in pediatric and adult patients: Comparison of efficacy and safety, file c21fa9e9-f564-4c65-87d3-59640dd7537d
|
2
|
|
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease, file c5617dd2-86c7-40bd-b4d3-8b7cdf70d856
|
2
|
|
Clinical variability in children with dolichoarteriopathies of the internal carotid artery, file c735276e-f015-4e87-834f-1b5ee724eb66
|
2
|
|
Severe hyponatremia followed by extrapontine myelinolysis (vol 69, pg 423, 2006), file c9082121-998b-4661-96b1-a27803330a24
|
2
|
|
Agenesis of internal carotid artery and hypopituitarism: case report and review of literature., file cc19d064-8de3-4bb1-8b0a-679e7da68ca1
|
2
|
|
Shwachman syndrome with i(7q) and role of chromosome 7 anomalies in myeloproliferative disorders, file ce6d7b85-8359-48ae-b9cd-9284c7038e57
|
2
|
|
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients, file d1c0461a-e013-4ccd-8958-0fd0d6e1369b
|
2
|
|
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism, file d30981df-3740-46cf-b003-58cd3f991202
|
2
|
|
Malattie neuro cutanee, file d3fb2a23-61f6-45e4-96b0-c8475360cfcc
|
2
|
|
Infantile spasms followed by childhood absence epilepsy: A case series, file d98a28d8-608f-4297-a01c-8dd89bc03f17
|
2
|
|
Sindrome di Gilles de la Tourette post- traumatica in un ragazzo di 12 anni, file dc60c22c-d1a7-48e0-bffc-7e4244a67163
|
2
|
|
Hemorrhagic shock and encephalopathy: Diagnostic criteria, file e9d108c7-106d-4cf4-b8e2-5dd2d1be8887
|
2
|
|
Malattia di Hartnup in un bambino di due anni con autismo, file f80d5f6d-44fc-4d31-976f-ae3b69b8ecd4
|
2
|
|
Infantile mitochondria encephalomyopathies: Report on 4 cases, file 09135d9f-2836-4eab-99ad-5401775e744b
|
1
|
|
Study of HLA-linked susceptibility gene (s) in two unrelated families with multiple cases of Immotile-cilia- syndrome, file 0b691ff1-5899-4998-9218-b3f12160c60e
|
1
|
|
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up, file 0fbb86e6-bbea-4657-ac14-cf88bf3fda30
|
1
|
|
La sincope vasovagale, file 10231156-a16a-41bb-86d9-fbb4d2d2d62f
|
1
|
|
Il fenotipo elettroclinico dell’epilessia nella Sindrome di Mowat-Wilson: uno studio su 22 pazienti, file 115a376e-6dc9-494d-8ba7-b2c20233b720
|
1
|
|
Deficit di citocromo-c- ossidasi e NADH- cit.-c- reduttasi totale nella
malattia di Alpers, file 125c3717-a66f-47c6-8341-badb516780eb
|
1
|
|
Long term out come of epilepsy in Kabuki syndrome, file 12aa01bf-c6ad-46df-be78-1024998ee0b3
|
1
|
|
Cromosoma 1 ad anello sovrannumerario a mosaicismo in una paziente di 18 anni. Studio clinico e follow-up, file 1341de22-024d-4ef8-baec-e14f79e55de9
|
1
|
|
Leigh disease: Clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency, file 16f9d7ca-51d5-437a-8726-f7b8914915bd
|
1
|
|
Benign convulsions associated with mild gastroenteritis: A multicenter clinical study, file 18ce7cd1-4782-4218-b4e5-e623bb7c880c
|
1
|
|
Haemorrhagic shock and encephalopaty syndrome: descrizione di 3 casi, file 1cb8bb4d-2bc7-4e07-98e5-4bf65fe45946
|
1
|
|
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13., file 1ec4ef3f-4e73-456b-bfe9-814b1d743f71
|
1
|
|
Vomito ciclico notturno con acidosi metabolica in un soggetto con iperlipoproteinemia di tipo II, file 20523bea-8ba9-412f-ba8a-d5562c636e3c
|
1
|
|
Ipertensione arteriosa secondaria a nefropatia vascolare in una bambina di
cinque anni, file 2074cbdc-d29c-45a6-8652-04267c575e4e
|
1
|
|
Spasmi infantili e sindrome di Leigh: descrizione di un caso, file 207e98d8-cfbf-43e2-8124-b31fd313f2c7
|
1
|
|
Interessamento multisistemico in una paziente con deficit multienzimatico
della catena respiratoria., file 22d7fdc4-eaed-4b8d-b02b-94217d0d2b55
|
1
|
|
Sindrome di Gordon: descrizione di un caso senza familiarità, file 2414a154-361b-4850-acf5-cace70668eb4
|
1
|
| Totale |
1.751 |