| Nome |
# |
|
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test, file e383531b-7d76-15e8-e053-a505fe0a3de9
|
269
|
|
PRICKLE1-related early onset epileptic encephalopathy, file e3835320-f82f-15e8-e053-a505fe0a3de9
|
256
|
|
Living with phenylketonuria in adulthood: the PKU ATTITUDE study, file e383531b-addd-15e8-e053-a505fe0a3de9
|
219
|
|
The complete European guidelines on phenylketonuria: diagnosis and treatment, file e3835318-ae34-15e8-e053-a505fe0a3de9
|
180
|
|
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO), file e3835318-3348-15e8-e053-a505fe0a3de9
|
129
|
|
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3, file e3835328-f87b-15e8-e053-a505fe0a3de9
|
119
|
|
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study, file e3835322-881a-15e8-e053-a505fe0a3de9
|
114
|
|
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria, file e3835319-a5f3-15e8-e053-a505fe0a3de9
|
107
|
|
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome, file e3835322-46fd-15e8-e053-a505fe0a3de9
|
104
|
|
ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T, file e3835318-46b8-15e8-e053-a505fe0a3de9
|
100
|
|
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis, file e3835324-a8e6-15e8-e053-a505fe0a3de9
|
100
|
|
Ataxia-telangiectasia. A new remitting form with a peculiar transcriptome signature, file e3835321-b9cd-15e8-e053-a505fe0a3de9
|
99
|
|
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels, file e3835323-cc1b-15e8-e053-a505fe0a3de9
|
98
|
|
Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia, file e3835312-abad-15e8-e053-a505fe0a3de9
|
95
|
|
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria, file e3835325-3883-15e8-e053-a505fe0a3de9
|
93
|
|
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial, file e3835316-bc73-15e8-e053-a505fe0a3de9
|
90
|
|
Clinical and biochemical features in a patient with mitochondrial fission factor gene alteration, file e383531e-b30c-15e8-e053-a505fe0a3de9
|
87
|
|
Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene, file 79a00f70-cbfd-4a3f-928d-9f676f3871ef
|
83
|
|
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia, file e383532e-64cd-15e8-e053-a505fe0a3de9
|
79
|
|
Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency, file e383532c-e0e3-15e8-e053-a505fe0a3de9
|
77
|
|
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry, file e383532d-10db-15e8-e053-a505fe0a3de9
|
68
|
|
Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features, file 2ac8f0cb-beec-4e63-8fc3-ebb6af58a913
|
66
|
|
Untreated PKU patients without intellectual disability: What do they teach us?, file e3835324-3579-15e8-e053-a505fe0a3de9
|
65
|
|
The Genetic Landscape and Epidemiology of Phenylketonuria, file e3835327-2126-15e8-e053-a505fe0a3de9
|
65
|
|
GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome, file e3835317-0406-15e8-e053-a505fe0a3de9
|
63
|
|
Genetic neonatal-onset epilepsies and developmental/epileptic encephalopathies with movement disorders: A systematic review, file 0118fc69-026f-48fb-b104-8b5ceee9cf23
|
59
|
|
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism, file 6a7ae134-5c8d-4f57-9b37-3819a1f82b1f
|
55
|
|
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients, file e3835329-5860-15e8-e053-a505fe0a3de9
|
53
|
|
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature, file e383532e-7eeb-15e8-e053-a505fe0a3de9
|
53
|
|
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes, file e3835327-bcfc-15e8-e053-a505fe0a3de9
|
51
|
|
Acute ischemic stroke in childhood: a comprehensive review, file e383532d-056f-15e8-e053-a505fe0a3de9
|
49
|
|
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples., file e3835327-c052-15e8-e053-a505fe0a3de9
|
46
|
|
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum, file e383532d-64ec-15e8-e053-a505fe0a3de9
|
46
|
|
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile, file e383532c-e70b-15e8-e053-a505fe0a3de9
|
45
|
|
Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone, file e383532d-5e36-15e8-e053-a505fe0a3de9
|
45
|
|
KCNQ2 encephalopathy manifesting with Rett-like features
A follow-up into adulthood, file e3835327-dc80-15e8-e053-a505fe0a3de9
|
44
|
|
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients, file e383532d-0f02-15e8-e053-a505fe0a3de9
|
44
|
|
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines, file e383532c-bbcc-15e8-e053-a505fe0a3de9
|
43
|
|
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness, file e3835328-b8db-15e8-e053-a505fe0a3de9
|
42
|
|
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling, file 64766bae-64ba-4194-9a43-64b19c4a859d
|
39
|
|
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies, file e383532d-125e-15e8-e053-a505fe0a3de9
|
36
|
|
Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies, file e383532c-c189-15e8-e053-a505fe0a3de9
|
34
|
|
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study., file 735e70fc-61fa-4f36-93d1-80e273e098cd
|
28
|
|
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations, file e383532d-f3cd-15e8-e053-a505fe0a3de9
|
27
|
|
NGS in hereditay ataxia: when rare becomes frequent, file e383532e-4c37-15e8-e053-a505fe0a3de9
|
25
|
|
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance, file e383532e-3be7-15e8-e053-a505fe0a3de9
|
23
|
|
Executive function impairment in early - treated PKU subjects with normal mental development, file e3835311-9786-15e8-e053-a505fe0a3de9
|
19
|
|
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis, file e3835311-ee51-15e8-e053-a505fe0a3de9
|
19
|
|
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism, file 11dbff4e-6f37-4a0c-b187-f0ac5edd0405
|
18
|
|
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy, file 3386c5af-ea6d-4dee-bb9a-e581339062cb
|
15
|
|
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans, file 4b459fd0-6147-42c9-80bf-89ca62312740
|
15
|
|
Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine, file e383532e-86d8-15e8-e053-a505fe0a3de9
|
13
|
|
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders, file e7161a9b-a0f8-4f1a-bea7-a1d7338927e4
|
12
|
|
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease, file 3ede08d8-3c35-473b-894a-43e0f087c727
|
11
|
|
MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement, file b660b4d4-41f6-4191-9fd0-e2e1b99de32a
|
10
|
|
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease, file ea052bc9-b520-469e-b4d7-cf7a2bb33d77
|
10
|
|
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21, file 81c26002-26c2-43f6-b419-18c8713cec57
|
9
|
|
Visual, Auditory and Somatosensorial Evoked Potentials in Early and Late Treated Adolescents with Phenylketonuria, file e3835311-9684-15e8-e053-a505fe0a3de9
|
9
|
|
Severe early onset ethylmalonic encephalopathy with west syndrome, file e3835313-2418-15e8-e053-a505fe0a3de9
|
9
|
|
Very early pattern of movement disorders in sepiapterin reductase deficiency., file e3835312-607e-15e8-e053-a505fe0a3de9
|
8
|
|
Validity and reliability of italian version of the non-communicating children's pain checklist. Revised version, file e383531b-eee5-15e8-e053-a505fe0a3de9
|
8
|
|
Arginine : glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease, file e3835311-b391-15e8-e053-a505fe0a3de9
|
7
|
|
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient, file 3b7cb9fb-bf75-43f2-972a-25c725495a8b
|
6
|
|
Psychogenic non-epileptic seizures and functional motor disorders in developmental age: A comparison of clinical and psychopathological features, file 9901d459-350e-4362-9574-2232df6d5035
|
6
|
|
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome, file e383531a-171b-15e8-e053-a505fe0a3de9
|
6
|
|
Metabolic epilepsy, an update, file e383531b-3a3a-15e8-e053-a505fe0a3de9
|
6
|
|
PRICKLE1-Related Disorders, file e383532f-1820-15e8-e053-a505fe0a3de9
|
6
|
|
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs, file e3835313-4b1c-15e8-e053-a505fe0a3de9
|
5
|
|
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants, file 7b49cb62-3c42-403e-9157-169ee71a707b
|
4
|
|
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree, file e3835311-b21f-15e8-e053-a505fe0a3de9
|
4
|
|
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study, file e3835314-6142-15e8-e053-a505fe0a3de9
|
4
|
|
A new therapy prevents intellectual disability in mouse with phenylketonuria, file e383531a-abaf-15e8-e053-a505fe0a3de9
|
4
|
|
TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis, file e383532c-e911-15e8-e053-a505fe0a3de9
|
4
|
|
The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism, file c4c56ae5-32ff-4066-afce-a7fcfa88a4c5
|
3
|
|
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments, file ca0e44a5-ff4a-4cf8-87b8-ddcb90e56b70
|
3
|
|
Management of phenylketonuria in Europe: Survey results from 19 countries, file e3835312-1926-15e8-e053-a505fe0a3de9
|
3
|
|
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study, file e3835312-b624-15e8-e053-a505fe0a3de9
|
3
|
|
Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial., file e3835312-dc1d-15e8-e053-a505fe0a3de9
|
3
|
|
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients, file e3835318-0a2b-15e8-e053-a505fe0a3de9
|
3
|
|
Psychiatric disorders in adolescent and young adult patients with phenylketonuria, file e383531c-428d-15e8-e053-a505fe0a3de9
|
3
|
|
Ap1s2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency, file e383531e-c7c5-15e8-e053-a505fe0a3de9
|
3
|
|
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies, file e3835321-72f4-15e8-e053-a505fe0a3de9
|
3
|
|
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism, file e3835324-d0ee-15e8-e053-a505fe0a3de9
|
3
|
|
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies, file e3835311-76bd-15e8-e053-a505fe0a3de9
|
2
|
|
Expanding CEP290 mutational spectrum in ciliopathies, file e3835311-8ac2-15e8-e053-a505fe0a3de9
|
2
|
|
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics, file e3835311-e550-15e8-e053-a505fe0a3de9
|
2
|
|
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype, file e3835311-ef35-15e8-e053-a505fe0a3de9
|
2
|
|
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients., file e3835311-f142-15e8-e053-a505fe0a3de9
|
2
|
|
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome, file e3835312-1be1-15e8-e053-a505fe0a3de9
|
2
|
|
A novel mouse model of creatine transporter deficiency, file e3835313-5079-15e8-e053-a505fe0a3de9
|
2
|
|
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders, file e383531e-1773-15e8-e053-a505fe0a3de9
|
2
|
|
Erythrocyte-mediated delivery of recombinant enzymes, file e383531e-48c5-15e8-e053-a505fe0a3de9
|
2
|
|
Neurotransmitter trafficking defect in a patient with clathrin (cltc) variation presenting with intellectual disability and early-onset parkinsonism, file e383531e-a9db-15e8-e053-a505fe0a3de9
|
2
|
|
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type b, file e3835320-ce56-15e8-e053-a505fe0a3de9
|
2
|
|
Aromatic amino acid decarboxylase deficiency. molecular and metabolic basis and therapeutic outlook, file e3835320-f3fa-15e8-e053-a505fe0a3de9
|
2
|
|
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder, file e3835321-24fe-15e8-e053-a505fe0a3de9
|
2
|
|
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review, file e3835321-3862-15e8-e053-a505fe0a3de9
|
2
|
|
Clinical characterization of tremor in patients with phenylketonuria, file e3835323-ede4-15e8-e053-a505fe0a3de9
|
2
|
|
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes, file e3835329-4d04-15e8-e053-a505fe0a3de9
|
2
|
|
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins, file e383532c-dd30-15e8-e053-a505fe0a3de9
|
2
|
| Totale |
4.023 |