ACCOGLI, ANDREA
 Distribuzione geografica
Continente #
EU - Europa 1.902
Totale 1.902
Nazione #
IT - Italia 1.902
Totale 1.902
Città #
Genova 1.032
Rapallo 467
Genoa 384
Bordighera 19
Totale 1.902
Nome #
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 136
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 118
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 116
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 116
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 116
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 115
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 102
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 98
Chiari malformation type I: what information from the genetics? 94
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 94
Genetic Screening of Pediatric Cavernous Malformations 93
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 68
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 55
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 55
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 46
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 40
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 37
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 32
Diagnostic Approach to Macrocephaly in Children 31
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 29
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 29
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations 27
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 27
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 24
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 24
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 22
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 22
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 22
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 20
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 18
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 18
Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion” 17
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 15
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 12
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 10
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 9
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 9
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion 7
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 7
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature 6
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 6
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cyst 6
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity 5
Hydranencephaly in CENPJ-related Seckel syndrome 5
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder 5
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 4
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 4
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 4
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 3
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes 2
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion 2
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts 1
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 1
Totale 1.984
Categoria #
all - tutte 8.228
article - articoli 8.228
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 16.456


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201936 0 0 0 0 0 0 0 0 0 6 18 12
2019/2020402 16 13 5 27 40 40 75 40 47 54 29 16
2020/2021268 17 17 29 71 5 10 17 22 11 29 19 21
2021/2022301 15 17 18 21 23 23 6 48 34 44 12 40
2022/2023557 25 42 10 42 77 59 17 68 86 6 112 13
2023/2024341 21 53 22 72 32 74 32 19 16 0 0 0
Totale 1.984