| 36175354 | Expanding the natural history of CASK-related disorders to the prenatal period. | Dev Med Child Neurol | 2023 |
| 37591769 | Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis. | AJNR Am J Neuroradiol | 2023 |
| 37584626 | Laser interstitial thermal therapy in pediatric cerebellar epilepsy. | Epileptic Disord | 2023 |
| 37131188 | The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. | Orphanet J Rare Dis | 2023 |
| 36788019 | Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. | J Med Genet | 2023 |
| 36564212 | Teaching NeuroImage: <i>ROBO3</i> Mutation Causing Horizontal Gaze Palsy and Brainstem Malformation. | Neurology | 2023 |
| 36822823 | Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation. | AJNR Am J Neuroradiol | 2023 |
| 34674207 | Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome. | Neuropediatrics | 2022 |
| 35560436 | A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia. | Mov Disord | 2022 |
| 35749078 | Neuroimaging in cerebellar ataxia in childhood: A review. | J Neuroimaging | 2022 |
| 36137655 | Refining the Neuroimaging Definition of the Dandy-Walker Phenotype. | AJNR Am J Neuroradiol | 2022 |
| 35863333 | Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome". | Neuropediatrics | 2022 |
| 36079864 | Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. | Nutrients | 2022 |
| 35038753 | How to Detect Isolated PEX10-Related Cerebellar Ataxia? | Neuropediatrics | 2022 |
| 34937403 | Neuroradiological Mimics of Periventricular Leukomalacia. | J Child Neurol | 2022 |
| 35305115 | Radiologic and clinical outcome of isolated fourth ventricle following post-hemorrhagic hydrocephalus in children. | Childs Nerv Syst | 2022 |
| 34675124 | <i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. | J Med Genet | 2022 |
| 33005949 | Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. | J Clin Endocrinol Metab | 2021 |
| 33511591 | Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1. | Neuropediatrics | 2021 |
| 34423300 | Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. | Brain Commun | 2021 |
| 34593381 | Can MRI Differentiate between Infectious and Immune-Related Acute Cerebellitis? A Retrospective Imaging Study. | AJNR Am J Neuroradiol | 2021 |
| 34255731 | Neuroimaging Features of Ectopic Cerebellar Tissue: A Case Series Study of a Rare Entity. | AJNR Am J Neuroradiol | 2021 |
| 33024317 | Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. | Genet Med | 2021 |
| 32410094 | Pontocerebellar Hypoplasia: a Pattern Recognition Approach. | Cerebellum | 2020 |
| 31710777 | Healthcare recommendations for Joubert syndrome. | Am J Med Genet A | 2020 |
| 31942658 | Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : AÂ Pictorial Review. | Clin Neuroradiol | 2020 |
| 32918381 | Evidence of pathogenicity for the leaky splice variant c.1066-6T>Gâ¿¿in ATM. | Am J Med Genet A | 2020 |
| 32820246 | Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. | Genet Med | 2020 |
| 32698785 | Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report. | BMC Med Genet | 2020 |
| 30873288 | Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla. | Cerebellum Ataxias | 2019 |
| 30066250 | The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis. | Eur Radiol | 2019 |
| 31261436 | VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern. | Neuropediatrics | 2019 |
| 31481303 | A clinical diagnostic algorithm for early onset cerebellar ataxia. | Eur J Paediatr Neurol | 2019 |
| 31332433 | SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis. | Brain | 2019 |
| 30799093 | Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations. | Eur J Paediatr Neurol | 2019 |
| 30797593 | Area Postrema: Fetal Maturation, Tumors, Vomiting Center, Growth, Role in Neuromyelitis Optica. | Pediatr Neurol | 2019 |
| 30913568 | Clinical Pathways in Neuro-Ophthalmology. | Neuropediatrics | 2019 |
| 30939598 | Cranial Neuroimaging and Clinical Neuroanatomy. | Neuropediatrics | 2019 |
| 30875699 | Aicardi's Diseases of the Nervous System in Childhood. | Neuropediatrics | 2019 |
| 30847875 | RadCases Plus Q&A Neuro Imaging. | Neuropediatrics | 2019 |
| 29186744 | Pediatric Spinal Deformities. | Neuropediatrics | 2018 |
| 29913530 | Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia. | Neuropediatrics | 2018 |
| 29891079 | Nonprogressive congenital ataxias. | Handb Clin Neurol | 2018 |
| 29891072 | Drug treatment. | Handb Clin Neurol | 2018 |
| 29903445 | Laboratory investigations. | Handb Clin Neurol | 2018 |
| 29852511 | Rhoton's Atlas of Head, Neck, and Brain. | Neuropediatrics | 2018 |
| 29791933 | Infantile Basal Ganglia Stroke after Mild Head Trauma Associated with Mineralizing Angiopathy of Lenticulostriate Arteries: An Under Recognized Entity. | Neuropediatrics | 2018 |
| 29486503 | Torcular Pseudomass. | Neuropediatrics | 2018 |
| 29482253 | Brain Arteriovenous Malformations and Arteriovenous Fistulas. | Neuropediatrics | 2018 |
| 29757724 | Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. | Radiographics | 2018 |