Nome |
# |
Deletion Extents are not the cause of clinical variability in 22q11.2 deletion syndrome: Does the interaction between DGCR8 and miRNA-CNVs play a major role?, file e0d6c929-9897-fcf8-e053-d805fe0aa794
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131
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Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test, file e0d6c92c-7c99-fcf8-e053-d805fe0aa794
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114
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Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?, file e0d6c92c-a849-fcf8-e053-d805fe0aa794
|
104
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Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data, file e0d6c92c-ca5e-fcf8-e053-d805fe0aa794
|
91
|
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study, file e0d6c92c-879e-fcf8-e053-d805fe0aa794
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89
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Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency, file e0d6c92f-2639-fcf8-e053-d805fe0aa794
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52
|
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?, file e0d6c92d-5d7c-fcf8-e053-d805fe0aa794
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50
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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study, file e0d6c92e-3698-fcf8-e053-d805fe0aa794
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49
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Early neurodevelopmental characterization in children with cobalamin C/defect, file e0d6c92e-84b6-fcf8-e053-d805fe0aa794
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48
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Behavioural and emotional changes during covid-19 lockdown in an italian paediatric population with neurologic and psychiatric disorders, file e0d6c92f-cc1f-fcf8-e053-d805fe0aa794
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46
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CASK related disorder: Epilepsy and developmental outcome, file e0d6c931-9ae2-fcf8-e053-d805fe0aa794
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44
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Focusing on autism spectrum disorder in xia–gibbs syndrome: Description of a female with high functioning autism and literature review, file e0d6c931-5925-fcf8-e053-d805fe0aa794
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32
|
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy, file e0d6c931-9057-fcf8-e053-d805fe0aa794
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32
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Suitability of external controls for drug evaluation in Duchenne muscular dystrophy, file e0d6c92f-b00f-fcf8-e053-d805fe0aa794
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27
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Expanding the natural history of CASK-related disorders to the prenatal period, file 8e7472c7-5fc7-4917-a747-c1f0b2d8cae4
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26
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Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency, file e0d6c92f-7f0b-fcf8-e053-d805fe0aa794
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24
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New Technological Approach for the Evaluation of Postural Control Abilities in Children with Developmental Coordination Disorder, file 726f056a-9782-485c-8cd2-cc238a1ad64f
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23
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Expanding the clinical and genetic heterogeneity of SPAX5, file e0d6c92f-b11c-fcf8-e053-d805fe0aa794
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23
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Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients, file dcf7f59e-ca0e-4d09-8b70-becde69ab3c2
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22
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The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study, file e0d6c931-72ec-fcf8-e053-d805fe0aa794
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18
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Parental distress in the time of COVID-19: A cross-sectional study on pediatric patients with neuropsychiatric conditions during lockdown, file e0d6c931-943a-fcf8-e053-d805fe0aa794
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15
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function, file d53326c8-abe4-4576-8846-37a8f29e9630
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14
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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome, file e0d6c92e-3cb3-fcf8-e053-d805fe0aa794
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14
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Ngs in hereditary ataxia: When rare becomes frequent, file e0d6c931-7377-fcf8-e053-d805fe0aa794
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14
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Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging, file e0d6c931-96c7-fcf8-e053-d805fe0aa794
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14
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2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma, file 730b9e91-3432-4b00-8970-90c72d800be8
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13
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Phenotypic definition and genotype-phenotype correlates in pmpca-related disease, file 73245c40-d829-43b5-b1db-423a07ca6ff2
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13
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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome, file c624d16c-12e8-4ecc-a745-fee1530c18c1
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13
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Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: A case report, file e0d6c92f-91c7-fcf8-e053-d805fe0aa794
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13
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Age and sex prevalence estimate of Joubert syndrome in Italy, file e0d6c92f-9e0d-fcf8-e053-d805fe0aa794
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13
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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up, file e0d6c931-9436-fcf8-e053-d805fe0aa794
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13
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The role of preclinical models in creatine transporter deficiency: Neurobiological mechanisms, biomarkers and therapeutic development, file e0d6c931-943c-fcf8-e053-d805fe0aa794
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13
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Inter and intra-rater reliability and minimal detectable difference of movement disorder-childhood rating scale, file e0d6c92c-b454-fcf8-e053-d805fe0aa794
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12
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Natural history of KBG syndrome in a large European cohort, file 2788e3ef-7b7e-4052-95ba-b50f8f3847e9
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11
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A Retrospective Longitudinal Study in a Cohort of Children With Dyskinetic Cerebral Palsy Treated With Tetrabenazine, file e0d6c931-7195-fcf8-e053-d805fe0aa794
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11
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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants, file e0d6c931-9997-fcf8-e053-d805fe0aa794
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11
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De novo 1q21.3q22 duplication revaluation in a “cold” complex neuropsychiatric case with syndromic intellectual disability, file e0d6c931-94f6-fcf8-e053-d805fe0aa794
|
10
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Genetic modifiers of upper limb function in Duchenne muscular dystrophy, file f75f716c-f525-4d25-9a98-c2b56c2471c2
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10
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Clinical, molecular and glycophenotype insights in SLC39A8-CDG, file e0d6c931-9437-fcf8-e053-d805fe0aa794
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9
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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network, file 10b0e364-9f04-4fe6-8cb4-98820265c5d5
|
8
|
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review, file 83eaf539-3bfb-4336-b819-a97fb997dd17
|
8
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Cortical Thickness and Clinical Findings in Prescholar Children With Autism Spectrum Disorder, file 950ab1e1-facd-42b0-bfe9-6403c0e78e6f
|
8
|
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers, file e0d6c92c-beee-fcf8-e053-d805fe0aa794
|
8
|
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52, file e0d6c92f-b00d-fcf8-e053-d805fe0aa794
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8
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Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances, file 4bbd915d-588c-4228-aee1-c4d66aef6a3f
|
7
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Lung ultrasound in young children with neurological impairment: A proposed integrative clinical tool for deaeration-detection related to feeding, file 824d5036-e289-49fb-b889-866006270028
|
7
|
Learning disabilities in neuromuscular disorders: a springboard for adult life, file e0d6c92c-b626-fcf8-e053-d805fe0aa794
|
7
|
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review, file e0d6c92d-ad74-fcf8-e053-d805fe0aa794
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7
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Parental Practices and Environmental Differences among Infants Living in Upper-Middle and High-Income Countries: A Cross-Sectional Study, file 09ba740b-36a1-4904-b67e-474498ef31d5
|
6
|
Neurovisual Manifestations in Children with Mild COVID-19: An Association to Remember, file 2240d6ff-ae88-4171-b7df-c6ea06e73565
|
6
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Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study, file 739b3731-5132-4aa3-88a5-d25bdb9ce35c
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6
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53, file e0d6c92d-5d7f-fcf8-e053-d805fe0aa794
|
6
|
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), file e0d6c931-97e0-fcf8-e053-d805fe0aa794
|
6
|
Burden professional support and social network in families of children and young aduts with muscular dystrophies, file 5cafb566-b425-4821-ba12-5cb69718f814
|
5
|
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series, file c9c56b00-8328-4045-bfbf-33f5b99d3cc2
|
5
|
null, file e0d6c92d-5d81-fcf8-e053-d805fe0aa794
|
5
|
Novel translational phenotypes and biomarkers for creatine transporter deficiency, file e0d6c92f-d841-fcf8-e053-d805fe0aa794
|
5
|
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus, file e0d6c931-7193-fcf8-e053-d805fe0aa794
|
5
|
Post-Traumatic Stress Reactions in Caregivers of Children and Adolescents/Young Adults with Severe Diseases: A Systematic Review of Risk and Protective Factors, file b7715259-a500-41dc-a878-6c7c9e8d2b37
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4
|
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase, file e0d6c92f-7ff4-fcf8-e053-d805fe0aa794
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4
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Phenotype and natural history of variant
late infantile ceroid-lipofuscinosis 5., file e0d6c930-755c-fcf8-e053-d805fe0aa794
|
4
|
Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission, file e0d6c931-72f2-fcf8-e053-d805fe0aa794
|
4
|
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review, file 51201e8e-22e5-46a9-85e6-6c3fcf8348a3
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3
|
Timed rise from floor as a Predictor od disease progression in Duchenne Muscular dystrophy: an Observational study, file e0d6c92c-7ca4-fcf8-e053-d805fe0aa794
|
3
|
null, file e0d6c92d-3ccc-fcf8-e053-d805fe0aa794
|
3
|
Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome, file e0d6c92f-b009-fcf8-e053-d805fe0aa794
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3
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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts, file e0d6c930-b89a-fcf8-e053-d805fe0aa794
|
3
|
null, file d39848fc-049a-4d9d-894e-865b39f68ab4
|
2
|
Phosphorylation-dependent degradation of MEF2C contributes to regulate G2/m transition, file d60e903e-f060-48aa-b537-d88335d37d27
|
2
|
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy, file e0d6c92e-71e3-fcf8-e053-d805fe0aa794
|
2
|
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum, file e0d6c931-50e0-fcf8-e053-d805fe0aa794
|
2
|
Does 7T MRI reveal a neuronal bridge between periventricular heterotopia and overlying cortical malformations?, file 0e4008cd-bcd5-4e4f-abe9-4172a48f76b6
|
1
|
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy, file 0f237e37-b95a-4b34-bc05-632f31be9eec
|
1
|
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?, file 112c93dc-cd64-40ea-8579-757ff69b3522
|
1
|
Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective Study, file 15be0502-4f8b-4481-9794-246713147050
|
1
|
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients, file 64f5defb-c9ce-4ce2-832b-fde2a0d76dba
|
1
|
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum, file 8d13c016-45ce-4b39-a90c-5aed6cc80b66
|
1
|
null, file d39d332f-4286-4105-bd4d-247f1defbdb9
|
1
|
Prenatal ultrasound and magnetic resonance features in a fetus with Walker-Warburg syndrome. Letters to the editor, file e0d6c92d-5858-fcf8-e053-d805fe0aa794
|
1
|
Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system?, file e0d6c92d-67cb-fcf8-e053-d805fe0aa794
|
1
|
A novel IRF2BPL truncating variant is associated with endolysosomal storage, file e0d6c92e-84b3-fcf8-e053-d805fe0aa794
|
1
|
Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy, file e0d6c930-a00d-fcf8-e053-d805fe0aa794
|
1
|
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome, file e0d6c930-c17c-fcf8-e053-d805fe0aa794
|
1
|
Neuroimaging patterns in paediatric onset hereditary spastic paraplegias, file e0d6c931-492f-fcf8-e053-d805fe0aa794
|
1
|
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment, file e0d6c931-67a7-fcf8-e053-d805fe0aa794
|
1
|
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study, file e0d6c931-94f8-fcf8-e053-d805fe0aa794
|
1
|
Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration, file e0d6c931-97e2-fcf8-e053-d805fe0aa794
|
1
|
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts, file e0d6c931-a80a-fcf8-e053-d805fe0aa794
|
1
|
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency, file e8eda7e0-c8c8-4072-9114-6cd484396309
|
1
|
Totale |
1.461 |