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Street Drugs
Neuroimaging
Brain Injuries
Substance-Related Disorders
Young Adult

Back pain and scoliosis in children: When to image, what to consider

Calloni, S. F., Huisman, T. A. G. M., Poretti, A. & Soares, B. P. Oct 1 2017 In : Neuroradiology Journal. 30, 5, p. 393-404 12 p.

Research output: Research - peer-reviewReview article

Scoliosis
Back Pain
Neurologic Examination
Physical Examination
History

Cerebellar Microstructural Organization is Altered by Complications of Premature Birth: A Case-Control Study

Brossard-Racine, M., Poretti, A., Murnick, J., Bouyssi-Kobar, M., McCarter, R., du Plessis, A. J. & Limperopoulos, C. Mar 1 2017 In : Journal of Pediatrics. 182, p. 28-33.e1

Research output: Research - peer-reviewArticle

Anisotropy
Premature Birth
Case-Control Studies
Diffusion Tensor Imaging
Premature Infants

Deregulated expression of EZH2 in congenital brainstem disconnection

Barth, P. G., Aronica, E., Fox, S., Fluiter, K., Weterman, M. A. J., Poretti, A., Miller, D. C., Boltshauser, E., Harding, B., Santi, M. & Baas, F. Jun 1 2017 In : Neuropathology and Applied Neurobiology. 43, 4, p. 358-365 8 p.

Research output: Research - peer-reviewLetter

Brain Hypoxia-Ischemia
Diffusion Tensor Imaging
Wounds and Injuries
Thalamus
Magnetic Resonance Imaging

Early-onset head titubation in a child with Poretti-Boltshauser syndrome

Masson, R., Piretti, E., Pellegrin, S., Gusson, E., Poretti, A., Valente, E. M. & Cantalupo, G. Apr 11 2017 In : Neurology. 88, 15, p. 1478-1479 2 p.

Research output: Research - peer-reviewShort survey

Head
Retinal Dystrophies
Cerebellar Diseases
Fourth Ventricle
Cerebellar Ataxia

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R. , Arrigoni, F. , Panzeri, E. , Poretti, A. , Micalizzi, A. , Citterio, A. , Bedeschi, M. F. , Berardinelli, A. , Cusmai, R. , D’Arrigo, S. , Ferraris, A. , Hackenberg, A. , Kuechler, A. , Mancardi, M. , Nuovo, S. , Oehl-Jaschkowitz, B. , Rossi, A. , Signorini, S. , Tüttelmann, F. , Wahl, D. & 5 others Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R. Sep 12 2017 (Accepted/In press) In : European Radiology. p. 1 1 p.

Research output: Research - peer-reviewArticle

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

de Diego, V. , Martínez-Monseny, A. F. , Muchart, J. , Cuadras, D. , Montero, R. , Artuch, R. , Pérez-Cerdá, C. , Pérez, B. , Pérez-Dueñas, B. , Poretti, A. , Serrano, M. , Aguilera-Albesa, S. , Cancho Candela, R. , Carrasco Marina, M. L. , Carratalá, F. , Couce, M. L. , Felipe, A. , García, Ó. , García-Silva, M. T. , Gutiérrez-Solana, L. G. & 10 others Macaya, A., Miranda, M. C., López, L., López-Laso, E., Póo, M. P., Quijada-Fraile, P., Robles, B., Sierra-Córcoles, C., Velázquez-Fragua, R. & Collaborators Of The Cdg Spanish-Consortium Jun 9 2017 (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-2 2 p.

Research output: Research - peer-reviewArticle

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

Cohen, J. S., Srivastava, S., Farwell Hagman, K. D., Shinde, D. N., Huether, R., Darcy, D., Wallerstein, R., Houge, G., Berland, S., Monaghan, K. G., Poretti, A., Wilson, A. L., Chung, W. K. & Fatemi, A. May 1 2017 In : Clinical Genetics. 91, 5, p. 697-707 11 p.

Research output: Research - peer-reviewArticle

Intellectual Disability
Genes
Corpus Callosum
Haploinsufficiency
Microcephaly

In reply: Distinguishing arterial ischemic stroke from hypoxic-ischemic encephalopathy in the neonate at birth

Adami, R. R., Grundy, M. E., Poretti, A., Felling, R. J., Lemmon, M. & Graham, E. M. 2017 In : Obstetrics and Gynecology. 129, 2, p. 389-390 2 p.

Research output: Research - peer-reviewLetter

Joubert syndrome: Neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

Poretti, A., Snow, J., Summers, A. C., Tekes, A., Huisman, T. A. G. M., Aygun, N., Carson, K. A., Doherty, D., Parisi, M. A., Toro, C., Yildirimli, D., Vemulapalli, M., Mullikin, J. C., Cullinane, A. R., Vilboux, T., Gahl, W. A., Gunay-Aygun, M. & NISC Comparative Sequencing Program Jan 13 2017 (Accepted/In press) In : Journal of Medical Genetics.

Research output: Research - peer-reviewArticle

Neuroimaging
Cognition
Joubert syndrome 1
Brain
Molecular Biology

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

de Diego, V., Martínez-Monseny, A. F., Muchart, J., Cuadras, D., Montero, R., Artuch, R., Pérez-Cerdá, C., Pérez, B., Pérez-Dueñas, B., Poretti, A. & Serrano, M. Mar 24 2017 (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-5 5 p.

Research output: Research - peer-reviewArticle

Atrophy
phosphomannomutase
Linear Models
Neuroimaging
Longitudinal Studies

Magnetic resonance imaging findings in children with spasmus nutans

Bowen, M., Peragallo, J. H., Kralik, S. F., Poretti, A., Huisman, T. A. G. M. & Soares, B. P. Apr 1 2017 In : Journal of AAPOS. 21, 2, p. 127-130 4 p.

Research output: Research - peer-reviewArticle

Infantile Spasms
Magnetic Resonance Imaging
Optic Nerve Glioma
Orbit
Neuroimaging

MR Imaging of Acute Cerebellar Involvement in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis

Soares, B. P., Calloni, S. F., Shrot, S. & Poretti, A. Jan 6 2017 (Accepted/In press) In : Neuropediatrics.

Research output: Research - peer-reviewArticle

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner, M. W., Poretti, A., Benson, J. E. & Huisman, T. A. G. M. Mar 1 2017 In : Journal of Neuroimaging. 27, 2, p. 162-209 48 p.

Research output: Research - peer-reviewArticle

Inborn Genetic Diseases
Neuroimaging
Pediatrics
Central Nervous System
Bone and Bones

Neuroimaging findings of congenital Zika virus infection: a pictorial essay

Zare Mehrjardi, M., Poretti, A., Huisman, T. A. G. M., Werner, H., Keshavarz, E. & Araujo Júnior, E. Jan 10 2017 (Accepted/In press) In : Japanese Journal of Radiology. p. 1-6 6 p.

Research output: Research - peer-reviewArticle

Neuroimaging
Zika Virus Infection
Lissencephaly
Fetus
Brain

Neuroimaging findings of postnatally acquired Zika virus infection: a pictorial essay

Zare Mehrjardi, M., Carteaux, G., Poretti, A., Sanei Taheri, M., Bermudez, S., Werner, H. & Hygino da Cruz, L. C. Apr 26 2017 (Accepted/In press) In : Japanese Journal of Radiology. p. 1-9 9 p.

Research output: Research - peer-reviewArticle

Neuroimaging
Zika Virus Infection
Nervous System
Fetus
Zika Virus

Neuroimaging findings of Zika virus infection: emphasis of congenital versus acquired aspects

Zare Mehrjardi, M., Poretti, A. & Keshavarz, E. Jan 1 2017 In : Japanese Journal of Radiology. 35, 1, p. 41-42 2 p.

Research output: Research - peer-reviewLetter

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

Summers, A. C., Snow, J., Wiggs, E., Liu, A. G., Toro, C., Poretti, A., Zein, W. M., Brooks, B. P., Parisi, M. A., Inati, S., Doherty, D., Vemulapalli, M., Mullikin, J. C., Vilboux, T., Gahl, W. A. & Gunay-Aygun, M. 2017 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Phenotype
Joubert syndrome 1
Electroencephalography
Intelligence
Language

Pediatric neurovascular imaging (CT/MRI/Ultrasound)

Huisman, T. A. G. M. & Poretti, A. May 6 2017 Pediatric Vascular Neurosurgery: Principles and Practice of Neurovascular Disorders (Part 1). Springer International Publishing, p. 77-109 33 p.

Research output: ResearchChapter

Pitfalls in Diffusion-Weighted and Diffusion Tensor Imaging of the Pediatric Brain

Agarwal, N., Tekes, A., Poretti, A., Meoded, A. & Huisman, T. A. G. M. Oct 1 2017 In : Neuropediatrics. 48, 5, p. 340-349 10 p.

Research output: Research - peer-reviewReview article

Diffusion Tensor Imaging
Pediatrics
Brain
Magnetic Resonance Imaging
Water

Prenatal Brainstem Disruptions: Small Lesions–Big Problems *

Boltshauser, E., Bauder, F., Giarrana, M., Hackenberg, A., Lebon, S., Roulet-Perez, E., Schmid, R., Schmitt-Mechelke, T. & Poretti, A. Apr 12 2017 (Accepted/In press) In : Neuropediatrics.

Research output: Research - peer-reviewArticle

Brain Stem
Prenatal Injuries
Cranial Nerves
Mesencephalon
Neuroimaging
Neuroimaging
General Anesthesia
Hemodynamics
Pediatrics
Brain
Connectome
Pediatrics
Brain
Post and Core Technique
Neuroimaging

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R. , Arrigoni, F. , Panzeri, E. , Poretti, A. , Micalizzi, A. , Citterio, A. , Bedeschi, M. F. , Berardinelli, A. , Cusmai, M. , D’Arrigo, S. , Ferraris, A. , Hackenberg, A. , Kuechler, A. , Mancardi, M. , Nuovo, S. , Oehl-Jaschkowitz, B. , Rossi, A. , Signorini, S. , Tüttelmann, F. , Wahl, D. & 5 others Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R. Jul 4 2017 (Accepted/In press) In : European Radiology. p. 1-13 13 p.

Research output: Research - peer-reviewArticle

Tubulin
Malformations of Cortical Development
Genes
Neuroimaging
Cysts

Tumor and Tumorlike Masses in Pediatric Patients that Involve Multiple Spaces

Bosemani, T. & Poretti, A. Feb 1 2017 In : Neuroimaging Clinics of North America. 27, 1, p. 135-153 19 p.

Research output: Research - peer-reviewReview article

Pediatrics
Neoplasms
Brain
Neuroimaging
2016

Acute Brain Imaging in Children: Can MRI Replace CT as a Screening Tool?

Wagner, M. W., Kontzialis, M., Seeburg, D., Stern, S. E., Oshmyansky, A., Poretti, A. & Huisman, T. A. G. M. Jan 1 2016 In : Journal of Neuroimaging. 26, 1, p. 68-74 7 p.

Research output: Research - peer-reviewArticle

Neuroimaging
Magnetic Resonance Imaging
Sensitivity and Specificity
Reading
Pediatrics

BRAT1 mutations present with a spectrum of clinical severity

Srivastava, S., Olson, H. E., Cohen, J. S., Gubbels, C. S., Lincoln, S., Davis, B. T., Shahmirzadi, L., Gupta, S., Picker, J., Yu, T. W., Miller, D. T., Soul, J. S., Poretti, A. & Naidu, S. 2016 (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Research - peer-reviewArticle

Mutation
Epilepsy
Seizures
Apraxias
Microcephaly

Case 236: Middle interhemispheric variant of holoprosencephaly

Yahyavi-Firouz-Abadi, N., Poretti, A., Idowu, O. R., Hoon, A. H., Huisman, T. A. & Izbudak, I. Dec 1 2016 In : Radiology. 281, 3, p. 969-974 6 p.

Research output: Research - peer-reviewArticle

Case 236

Yahyavi-Firouz-Abadi, N., Poretti, A., Idowu, O. R., Hoon, A. H., Huisman, T. A. & Izbudak, I. Aug 1 2016 In : Radiology. 280, 2, p. 640-642 3 p.

Research output: Research - peer-reviewComment/debate

Cerebellar and Brainstem Malformations

Poretti, A., Boltshauser, E. & Huisman, T. A. G. M. Aug 1 2016 In : Neuroimaging Clinics of North America. 26, 3, p. 341-357 17 p.

Research output: Research - peer-reviewReview article

Neuroimaging
Brain Stem
Genetic Counseling
Nervous System
Recurrence

Cerebellar Bottom-of-Fissure Dysplasia—a Novel Cerebellar Gray Matter Neuroimaging Pattern

Poretti, A., Capone, A., Hackenberg, A., Kraegeloh-Mann, I., Kurlemann, G., Laube, G., Pietz, J., Schimmel, M., Schwindt, W., Scheer, I. & Boltshauser, E. Dec 1 2016 In : Cerebellum. 15, 6, p. 705-709 5 p.

Research output: Research - peer-reviewArticle

Neuroimaging
Gray Matter
Cerebellar Diseases
Sequence Inversion
Cerebellar Cortex

Cerebellar disruptions and neurodevelopmental disabilities

Bosemani, T. & Poretti, A. 2016 (Accepted/In press) In : Seminars in Fetal and Neonatal Medicine.

Research output: Research - peer-reviewArticle

Cerebellum
Cerebellar Hypoplasia
Arnold-Chiari Malformation
Genetic Counseling
Neuroimaging

Cerebral reorganization after hemispherectomy: A DTI study

Meoded, A., Faria, A. V., Hartman, A. L., Jallo, G. I., Mori, S., Johnston, M. V., Huisman, T. A. G. M. & Andrea, P. May 1 2016 In : American Journal of Neuroradiology. 37, 5, p. 924-931 8 p.

Research output: Research - peer-reviewArticle

Hemispherectomy
Anisotropy
Pathology
Linear Models
Neurosurgical Procedures

Chiari Type 1 Deformity in Children: Pathogenetic, Clinical, Neuroimaging, and Management Aspects

Poretti, A., Ashmawy, R., Garzon-Muvdi, T., Jallo, G. I., Huisman, T. A. G. M. & Raybaud, C. Apr 27 2016 (Accepted/In press) In : Neuropediatrics.

Research output: Research - peer-reviewArticle

Encephalocele
Neuroimaging
Rhombencephalon
Patient Selection
Arnold-Chiari Malformation

Chiari type 1 malformation, corpus callosum agenesis and patent craniopharyngeal canal in an 11-year-old boy

Tijssen, M. P. M., Poretti, A. & Huisman, T. A. G. M. Oct 1 2016 In : Neuroradiology Journal. 29, 5, p. 307-309 3 p.

Research output: Research - peer-reviewArticle

Arnold-Chiari Malformation
Agenesis of Corpus Callosum
Precocious Puberty
Dermoid Cyst
Neuroimaging

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

Micalizzi, A. , Poretti, A. , Romani, M. , Ginevrino, M. , Mazza, T. , Aiello, C. , Zanni, G. , Baumgartner, B. , Borgatti, R. , Brockmann, K. , Camacho, A. , Cantalupo, G. , Haeusler, M. , Hikel, C. , Klein, A. , Mandrile, G. , Mercuri, E. , Rating, D. , Romaniello, R. , Santorelli, F. M. & 10 others Schimmel, M., Spaccini, L., Teber, S., Von Moers, A., Wente, S., Ziegler, A., Zonta, A., Bertini, E., Boltshauser, E. & Valente, E. M. Aug 1 2016 In : European Journal of Human Genetics. 24, 9, p. 1262-1267 6 p.

Research output: Research - peer-reviewArticle

Cysts
Cerebellar Ataxia
Neuroimaging
Founder Effect
Fourth Ventricle

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

Calloni, S. F., Cohen, J. S., Meoded, A., Juusola, J., Triulzi, F. M., Huisman, T. A. G. M., Poretti, A. & Fatemi, A. Oct 20 2016 (Accepted/In press) In : Pediatric Neurology.

Research output: Research - peer-reviewArticle

Diffusion Tensor Imaging
Corpus Callosum
Genes
Neurodevelopmental Disorders
Neuroimaging

Computed tomographic findings in microcephaly associated with Zika Virus

Hazin, A. N., Poretti, A., Martelli, C. M. T. & Huisman, T. A. Jun 2 2016 In : New England Journal of Medicine. 374, 22, p. 2193-2195 3 p.

Research output: Research - peer-reviewLetter

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: A lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

Vilboux, T. , Malicdan, M. C. V. , Chang, Y. M. , Guo, J. , Zerfas, P. M. , Stephen, J. , Cullinane, A. R. , Bryant, J. , Fischer, R. , Brooks, B. P. , Zein, W. M. , Wiggs, E. A. , Zalewski, C. K. , Poretti, A. , Bryan, M. M. , Vemulapalli, M. , Mullikin, J. C. , Kirby, M. , Anderson, S. M. , Huizing, M. & 4 others Toro, C., Gahl, W. A., Gunay-Aygun, M. & NISC Comparative Sequencing Program Apr 19 2016 In : Journal of Medical Genetics. 53, 5, p. 318-329 12 p.

Research output: Research - peer-reviewArticle

Tics
Myopia
Laminin
Cell Adhesion
Cell Movement

Diffusion tensor imaging: A biomarker of outcome in Krabbe's disease

Poretti, A., Meoded, A. & Fatemi, A. Nov 1 2016 In : Journal of Neuroscience Research. 94, 11, p. 1108-1115 8 p.

Research output: Research - peer-reviewReview article

Globoid Cell Leukodystrophy
Diffusion Tensor Imaging
Biomarkers
White Matter
Magnetic Resonance Imaging

Diffusion tensor imaging suggests extrapontine extension of pediatric diffuse intrinsic pontine gliomas

Wagner, M. W., Bell, W. R., Kern, J., Bosemani, T., Mhlanga, J., Carson, K. A., Cohen, K. J., Raabe, E. H., Rodriguez, F., Huisman, T. A. G. M. & Poretti, A. Apr 1 2016 In : European Journal of Radiology. 85, 4, p. 700-706 7 p.

Research output: Research - peer-reviewArticle

Diffusion Tensor Imaging
Glioma
Pediatrics
Internal Capsule
Extremities

Diffusion tractography biomarkers of pediatric cerebellar hypoplasia/atrophy: Preliminary results using constrained spherical deconvolution

Fiori, S., Poretti, A., Pannek, K., Del Punta, R., Pasquariello, R., Tosetti, M., Guzzetta, A., Rose, S., Cioni, G. & Battini, R. May 1 2016 In : American Journal of Neuroradiology. 37, 5, p. 917-923 7 p.

Research output: Research - peer-reviewArticle

Diffusion Tensor Imaging
Atrophy
Biomarkers
Pediatrics
Cerebellar Hypoplasia

Distinguishing Arterial Ischemic Stroke from Hypoxic-Ischemic Encephalopathy in the Neonate at Birth

Adami, R. R., Grundy, M. E., Poretti, A., Felling, R. J., Lemmon, M. & Graham, E. M. Oct 1 2016 In : Obstetrics and Gynecology. 128, 4, p. 704-712 9 p.

Research output: Research - peer-reviewArticle

Brain Hypoxia-Ischemia
Stroke
Parturition
Hypothermia
Platelet Count

Does superior caval vein pressure impact head growth in Fontan circulation?

Trachsel, T., Balmer, C., WÃ¥hlander, H. Ã., Weber, R., Dave, H., Poretti, A., Kretschmar, O. & Cavigelli-Brunner, A. Oct 1 2016 In : Cardiology in the Young. 26, 7, p. 1327-1332 6 p.

Research output: Research - peer-reviewArticle

Venae Cavae
Veins
Head
Pressure
Growth

Middle Cerebellar Peduncles T2-Hyperintense Signal in Fazio–Londe Syndrome

Franco, I. D. A., Aragão, M. D. M., Poretti, A., Silva, M. C. V. D., Diogo, W. J. D. G. & Masruha, M. R. Nov 23 2016 (Accepted/In press) In : Neuropediatrics.

Research output: Research - peer-reviewArticle

Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

Roosing, S. , Romani, M. , Isrie, M. , Rosti, R. O. , Micalizzi, A. , Musaev, D. , Mazza, T. , Al-gazali, L. , Altunoglu, U. , Boltshauser, E. , D'Arrigo, S. , Keersmaecker, B. D. , Kayserili, H. , Brandenberger, S. , Kraoua, I. , Mark, P. R. , McKanna, T. , Keirsbilck, J. V. , Moerman, P. , Poretti, A. & 4 others Puri, R., Esch, H. V., Gleeson, J. G. & Valente, E. M. Sep 1 2016 In : Journal of Medical Genetics. 53, 9, p. 608-615 8 p.

Research output: Research - peer-reviewArticle

Phenotype
Mutation
Ciliopathies
Joubert syndrome 1
Jeune syndrome

Neuroimaging findings in acute pediatric diabetic ketoacidosis

Barrot, A., Huisman, T. A. G. M. & Poretti, A. Oct 1 2016 In : Neuroradiology Journal. 29, 5, p. 317-322 6 p.

Research output: Research - peer-reviewArticle

Diabetic Ketoacidosis
Neuroimaging
Pediatrics
Central Nervous System
Brain Edema