| Nome |
# |
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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome, file dfe4d227-251f-bb0a-e053-d805fe0a78d9
|
1.064
|
|
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children, file dfe4d22d-cfad-bb0a-e053-d805fe0a78d9
|
109
|
|
Metal and essential element levels in hair and association with autism severity, file dfe4d229-e0c5-bb0a-e053-d805fe0a78d9
|
75
|
|
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder, file dfe4d228-2304-bb0a-e053-d805fe0a78d9
|
65
|
|
Mitochondrial fatty acid β-oxidation and resveratrol effect in fibroblasts from patients with autism spectrum disorder, file dfe4d22e-b182-bb0a-e053-d805fe0a78d9
|
59
|
|
Sensory Profiles in School-Aged Children with Autism Spectrum Disorder: A Descriptive Study Using the Sensory Processing Measure-2 (SPM-2), file dfe4d22e-c2c1-bb0a-e053-d805fe0a78d9
|
51
|
|
Diagnostic Approach to Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections (PANDAS): A Narrative Review of Literature Data, file dfe4d22e-524b-bb0a-e053-d805fe0a78d9
|
39
|
|
Critical appraisal of the European Union Scientific Committee on Health, Environmental and Emerging Risks (SCHEER) Preliminary Opinion on electronic cigarettes, file dfe4d22e-a7c2-bb0a-e053-d805fe0a78d9
|
38
|
|
Blink reflex abnormalities in children with Tourette syndrome, file dfe4d226-f985-bb0a-e053-d805fe0a78d9
|
36
|
|
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder, file dfe4d22c-1205-bb0a-e053-d805fe0a78d9
|
34
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A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses, file dfe4d229-9654-bb0a-e053-d805fe0a78d9
|
26
|
|
The relationship between group A streptococcal infections and
Tourette syndrome: a study on a large service-based cohort, file dfe4d227-3272-bb0a-e053-d805fe0a78d9
|
23
|
|
Association of Genetic Variation in the 3'UTR of LHX6, IMMP2L, and AADAC With Tourette Syndrome, file dfe4d22d-df34-bb0a-e053-d805fe0a78d9
|
21
|
|
COG6-CDG: Novel variants and novel malformation, file dfe4d22e-731d-bb0a-e053-d805fe0a78d9
|
21
|
|
Online comprehension across different semantic categories in preschool children with autism spectrum disorder, file dfe4d229-896b-bb0a-e053-d805fe0a78d9
|
20
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|
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder, file dfe4d229-a3d9-bb0a-e053-d805fe0a78d9
|
20
|
|
Circulating miRNAs profiles in tourette syndrome: molecular data
and clinical implications, file dfe4d227-006b-bb0a-e053-d805fe0a78d9
|
19
|
|
Hemihydranencephaly: living with half brain dysfunction., file dfe4d227-936c-bb0a-e053-d805fe0a78d9
|
18
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|
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder, file dfe4d22e-8b89-bb0a-e053-d805fe0a78d9
|
17
|
|
Primary headache in childhood associated with psychiatric disturbances: An update, file c415a9d8-1a89-4c87-8f44-ff4ad0a6dbf7
|
14
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|
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort, file dfe4d22e-3567-bb0a-e053-d805fe0a78d9
|
14
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|
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles, file dfe4d227-03ad-bb0a-e053-d805fe0a78d9
|
13
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|
Congenital muscular dystrophy: from muscle to brain, file dfe4d227-1824-bb0a-e053-d805fe0a78d9
|
13
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Ataxia in children: early recognition and clinical evaluation., file dfe4d227-2850-bb0a-e053-d805fe0a78d9
|
13
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|
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment, file dfe4d22b-9bd3-bb0a-e053-d805fe0a78d9
|
13
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|
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients, file dfe4d22e-7cfd-bb0a-e053-d805fe0a78d9
|
12
|
|
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), file dfe4d22e-c0ea-bb0a-e053-d805fe0a78d9
|
12
|
|
Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases, file dfe4d22e-24db-bb0a-e053-d805fe0a78d9
|
11
|
|
Hyperprolinemia type IA: benign metabolic anomaly or a trigger for brain dysfunction?, file dfe4d22b-9a2c-bb0a-e053-d805fe0a78d9
|
10
|
|
PARK2 microdeletion in a multiplex family with autism spectrum disorder, file be9c74d3-f228-4c3e-acee-0901e2cb4adb
|
9
|
|
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014, file dfe4d227-4af3-bb0a-e053-d805fe0a78d9
|
9
|
|
Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration, file 556e3a36-735f-4f78-a0f9-a03f8715b78d
|
8
|
|
Pediatric autoimmune neuropsychiatric disorder associated with group a streptococcal infection: the role of surgical treatment., file dfe4d226-ff85-bb0a-e053-d805fe0a78d9
|
8
|
|
A brief history of the European Society for the Study of Tourette Syndrome., file dfe4d227-2728-bb0a-e053-d805fe0a78d9
|
8
|
|
Comparison of metals and essential trace elements levels between Autistic
Spectrum Disorders cases and their sibs in Sicily (southern Italy), file dfe4d227-4b5b-bb0a-e053-d805fe0a78d9
|
8
|
|
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center, file dfe4d22d-9d65-bb0a-e053-d805fe0a78d9
|
8
|
|
Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novel SON variants, file f22b74dd-348f-4111-b51b-911b8b658e9e
|
8
|
|
Yale Global Tic Severity Scale (YGTSS): Psychometric Quality of the Gold Standard for Tic Assessment Based on the Large-Scale EMTICS Study, file 41244671-b508-4d24-8611-bc74b450e0b1
|
7
|
|
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting, file b98f2787-078f-4d46-baa6-e21a0c1d2ae9
|
7
|
|
European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment, file dfe4d226-f40b-bb0a-e053-d805fe0a78d9
|
7
|
|
Targeted re-sequencing approach of candidate genes implicates rare potentially functional variants in Tourette Syndrome etiology, file dfe4d227-33d2-bb0a-e053-d805fe0a78d9
|
7
|
|
Evaluation of the LIM homeobox genes LHX6 and LHX8 as candidates for Tourette syndrome., file dfe4d227-3a03-bb0a-e053-d805fe0a78d9
|
7
|
|
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome, file dfe4d227-3c13-bb0a-e053-d805fe0a78d9
|
7
|
|
Parent and Self-Report Health-Related Quality of Life Measures in Young Patients With Tourette Syndrome., file dfe4d227-486e-bb0a-e053-d805fe0a78d9
|
7
|
|
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample, file 2b3e85f2-5f94-444f-98c6-040066493ca9
|
6
|
|
Functional tic-like behaviours during the COVID-19 pandemic: Follow-up over 12 months, file 799c1bf7-5115-400d-86db-4f6c4d41d193
|
6
|
|
Early Sensory Profile in Autism Spectrum Disorders Predicts Emotional and Behavioral Issues, file 9032f3eb-9edb-41d7-ba15-09daba6367b1
|
6
|
|
European clinical guidelines for Tourette syndrome and other tic disorders—version 2.0. Part III: pharmacological treatment, file ce394017-efa8-4c51-9531-3ded26208f8d
|
6
|
|
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study, file dfe4d22e-c2c3-bb0a-e053-d805fe0a78d9
|
6
|
|
Vitamin D levels in children and adolescents with chronic tic disorders: a multicentre study, file 76ffabbb-ff9d-4d97-b110-b7ff9a2042a2
|
5
|
|
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19, file a4e13834-dcea-4f7d-97cd-aa9430151077
|
5
|
|
Hair cortisol-a stress marker in children and adolescents with chronic tic disorders? A large European cross-sectional study, file c73784e9-6cb8-47ac-bc09-78da02107301
|
5
|
|
European clinical guidelines for Tourette syndrome and other tic disorders—version 2.0. Part I: assessment, file df160c1f-c7b1-438e-a677-f0e2f53eb738
|
5
|
|
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism, file dfe4d226-f6b9-bb0a-e053-d805fe0a78d9
|
5
|
|
A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome, file dfe4d226-f841-bb0a-e053-d805fe0a78d9
|
5
|
|
The Gilles de la Tourette Syndrome-Quality of Life Scale for children and adolescents (C&A-GTS-QOL): Development and validation of the Italian version., file dfe4d227-3053-bb0a-e053-d805fe0a78d9
|
5
|
|
Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families., file dfe4d227-4474-bb0a-e053-d805fe0a78d9
|
5
|
|
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome, file dfe4d227-e4cf-bb0a-e053-d805fe0a78d9
|
5
|
|
Gilles de la tourette syndrome: Advice in the times of COVID-19, file dfe4d22d-ecd0-bb0a-e053-d805fe0a78d9
|
5
|
|
Symptoms compatible with long COVID in an Italian pediatric cohort of Tourette patients with and without SARS‑CoV‑2 infection: a short-term follow-up assessment, file f0e83d91-6134-4aca-a8da-cbd6dad9f7b4
|
5
|
|
PRIMARY OSTEOMA CUTIS - MULTIPLE CAFE-AU-LAIT SPOTS AND WOOLLY HAIR ANOMALY, file dfe4d227-1e61-bb0a-e053-d805fe0a78d9
|
4
|
|
DISTURBI DEL MOVIMENTO, file dfe4d227-51a7-bb0a-e053-d805fe0a78d9
|
4
|
|
CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder, file dfe4d228-16cd-bb0a-e053-d805fe0a78d9
|
4
|
|
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome, file 3223d9ea-bea7-44f2-9e92-acd63b3bb440
|
3
|
|
Autoimmune neuropsychiatric disorders associated with streptococcal infection: Sydenham chorea, PANDAS, and PANDAS variants, file 33285142-d767-4418-824a-1c5be4c43a34
|
3
|
|
Synaptic processes and immune-related pathways implicated in Tourette syndrome, file 696f61ed-d09a-4587-abd2-8bd4a6122741
|
3
|
|
Familial 18q12.2 deletion supports the role of RNA-bindingprotein CELF4 in autism spectrum disorders, file 7d3b35d9-6402-44e4-a455-12d9fe9fa611
|
3
|
|
Impact of the covid-19 pandemic on family wellbeing in the context of neurodevelopmental disorders, file af3baa54-7dc2-424d-8acd-e51293c476e8
|
3
|
|
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): A Model of a developmental field defect, file dfe4d227-070e-bb0a-e053-d805fe0a78d9
|
3
|
|
Complesso FF: una rara malformazione genetica, file dfe4d227-0a34-bb0a-e053-d805fe0a78d9
|
3
|
|
Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation, file dfe4d227-1756-bb0a-e053-d805fe0a78d9
|
3
|
|
European clinical guidelines for Tourette syndrome and other tic disorders. Part IV: deep brain stimulation, file dfe4d227-3271-bb0a-e053-d805fe0a78d9
|
3
|
|
Persistence in
Therapy With Risperidone and Aripiprazole in Pediatric Outpatients: A 2-Year
Naturalistic Comparison., file dfe4d227-9c21-bb0a-e053-d805fe0a78d9
|
3
|
|
Autosomal Dominant and sporadic radio-ulnar synostosis, file dfe4d227-f85d-bb0a-e053-d805fe0a78d9
|
3
|
|
Second generation antipsychotics in 'real-life'
paediatric patients. Adverse drug reactions and clinical outcomes of drug switch., file dfe4d22e-012c-bb0a-e053-d805fe0a78d9
|
3
|
|
Distress levels of parents of children with neurodevelopmental disorders during the COVID-19 pandemic: A comparison between Italy and Australia, file f17f2981-5c8d-4187-ae9b-d302a543c4a5
|
3
|
|
Replication of association between a SLITRK1 haplotype and Tourette Syndrome in a large sample of families, file dfe4d226-f6d8-bb0a-e053-d805fe0a78d9
|
2
|
|
Tourette Syndrome and comorbid ADHD: current pharmacological treatment options., file dfe4d227-01e8-bb0a-e053-d805fe0a78d9
|
2
|
|
Timing recalibration in childhood Tourette syndrome is associated with pimozide treatment, file dfe4d227-03bc-bb0a-e053-d805fe0a78d9
|
2
|
|
Cardiovascular safety of aripiprazole and pimozide in young patients with Tourette syndrome., file dfe4d227-0402-bb0a-e053-d805fe0a78d9
|
2
|
|
Oculogyric crisis: a rare extrapyramidal side effect in the treatment of Tourette syndrome, file dfe4d227-0807-bb0a-e053-d805fe0a78d9
|
2
|
|
Metabolic effects of aripiprazole and pimozide in children with tourette syndrome., file dfe4d227-0cb5-bb0a-e053-d805fe0a78d9
|
2
|
|
The successful use of ondansetron in a boy with both leukemia and Tourette syndrome, file dfe4d227-10e6-bb0a-e053-d805fe0a78d9
|
2
|
|
Gilles de la Tourette Syndrome, Depression, Depressive Illness, and Correlates in a Child and Adolescent Population, file dfe4d227-173c-bb0a-e053-d805fe0a78d9
|
2
|
|
Sturge-Weber syndrome. Typical and atypical cases. A clinical report on 8 patients, file dfe4d227-1758-bb0a-e053-d805fe0a78d9
|
2
|
|
The effects of comorbid obsessive-compulsive disorder and attention-deficit hyperactivity disorder on quality of life in tourette syndrome., file dfe4d227-31b6-bb0a-e053-d805fe0a78d9
|
2
|
|
LONG TERM NEUROLOGICAL OUTCOME OF SEXTUPLETS PREGNANCY, file dfe4d227-3d78-bb0a-e053-d805fe0a78d9
|
2
|
|
Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection, file dfe4d227-4282-bb0a-e053-d805fe0a78d9
|
2
|
|
Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort, file dfe4d227-438b-bb0a-e053-d805fe0a78d9
|
2
|
|
Temporal triangular alopecia in a mother and her daughter associated with mental retardation and seizures, file dfe4d227-48c0-bb0a-e053-d805fe0a78d9
|
2
|
|
Familial broad terminal phalanges with one individual showing additional anomalies, file dfe4d227-fc9d-bb0a-e053-d805fe0a78d9
|
2
|
|
Hyperkinetic movement disorders in congenital disorders of glycosylation, file dfe4d229-b5d8-bb0a-e053-d805fe0a78d9
|
2
|
|
Anti-dopamine D2 receptor antibodies in chronic tic disorders, file dfe4d22e-0b54-bb0a-e053-d805fe0a78d9
|
2
|
|
Use of nutritional supplements based on melatonin, tryptophan and vitamin B6 (Melamil Tripto®) in children with primary chronic headache, with or without sleep disorders: a pilot study, file dfe4d22e-1d0a-bb0a-e053-d805fe0a78d9
|
2
|
|
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements, file 15536a76-68cf-44af-88fd-c807f12bd837
|
1
|
|
Clinical correlates of quality of life in Tourette syndrome, file 98e4dde9-3aa9-42ad-8ad9-fdbe344f3ea8
|
1
|
|
Association of Trp53 polymorphic variants at codon 72 with nonsyndromic mental retardation, file 9ab8ecf1-9f41-4878-9d7d-59eedbd13aa3
|
1
|
|
Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic clonic seizures, file a5e64782-9209-459f-ac05-18d3873719a0
|
1
|
|
Lateral dermoid cyst of the tongue: case report, file dfe4d226-f6be-bb0a-e053-d805fe0a78d9
|
1
|
|
Association between D18S474 locus on chromosome 18q12 and idiopathic generalized epilepsy, file dfe4d226-fb75-bb0a-e053-d805fe0a78d9
|
1
|
| Totale |
2.173 |