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Items: 1 to 50 of 220

1.

Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome.

Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR.

Hum Mutat. 2019 Aug 26. doi: 10.1002/humu.23902. [Epub ahead of print]

PMID:
31448840
2.

Figure of Eight Stereotypies in a Young Girl With a Prenatal Cerebellar Injury.

Dean SL, Huisman TAGM, Poretti A, Singer HS.

Mov Disord Clin Pract. 2019 May 11;6(6):488-490. doi: 10.1002/mdc3.12775. eCollection 2019 Jul. No abstract available.

PMID:
31392252
3.

Expansion of the clinical spectrum associated with AARS2-related disorders.

Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S.

Am J Med Genet A. 2019 Aug;179(8):1556-1564. doi: 10.1002/ajmg.a.61188. Epub 2019 May 17.

PMID:
31099476
4.

Correlation Between White Matter Injury Identified by Neonatal Diffusion Tensor Imaging and Neurodevelopmental Outcomes Following Term Neonatal Asphyxia and Therapeutic Hypothermia: An Exploratory Pilot Study.

Gerner GJ, Newman EI, Burton VJ, Roman B, Cristofalo EA, Leppert M, Johnston MV, Northington FJ, Huisman TAGM, Poretti A.

J Child Neurol. 2019 Sep;34(10):556-566. doi: 10.1177/0883073819841717. Epub 2019 May 9.

PMID:
31070085
5.

Characterization of the Basal Ganglia Using Diffusion Tensor Imaging in Children with Self-Injurious Behavior and Tuberous Sclerosis Complex.

Gipson TT, Poretti A, Kelley SA, Carson KA, Johnston MV, Huisman TAGM.

J Neuroimaging. 2019 Jul;29(4):506-511. doi: 10.1111/jon.12628. Epub 2019 May 6.

6.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B.

Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13.

PMID:
30340910
7.

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Arrigoni F, Romaniello R, Peruzzo D, Poretti A, Bassi MT, Pierpaoli C, Valente EM, Nuovo S, Boltshauser E, Huisman TAGM, Triulzi F, Borgatti R.

Eur Radiol. 2019 Feb;29(2):770-782. doi: 10.1007/s00330-018-5610-0. Epub 2018 Jul 31.

PMID:
30066250
8.

Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature.

Hurni Y, Poretti A, Schneider J, Guzman R, Ramelli GP.

Neuropediatrics. 2018 Oct;49(5):302-309. doi: 10.1055/s-0038-1660854. Epub 2018 Jun 22. Review.

PMID:
29933461
9.

Persistent Extreme Hyperextension of the Fetal Neck: Clinical and Neuroimaging Findings.

Shrot S, Johnson CT, Golden WC, Baschat AA, Bullard JE, Tekes A, Poretti A, Dunn E, Huisman TAGM.

J Neuroimaging. 2018 May;28(3):278-282. doi: 10.1111/jon.12499. Epub 2018 Feb 5.

PMID:
29405479
10.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S.

Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28.

PMID:
29284168
11.

Radiological findings of abnormalities associated with congenital Zika virus infection: conclusions from World Radiology Day 2016.

Peggy Medlen K, Poretti A, Huisman TAGM, Muro JD, Butler P, Woletz P, Jiménez P.

Rev Panam Salud Publica. 2017 Dec 5;41:e133. doi: 10.26633/RPSP.2017.133. eCollection 2017.

12.

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 MF, 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, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.

Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. No abstract available.

PMID:
28900662
13.

Implementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex: A Case Report.

Gipson TT, Poretti A.

Child Neurol Open. 2017 Aug 22;4:2329048X17725609. doi: 10.1177/2329048X17725609. eCollection 2017 Jan-Dec.

14.

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

Calloni SF, Huisman TA, Poretti A, Soares BP.

Neuroradiol J. 2017 Oct;30(5):393-404. doi: 10.1177/1971400917697503. Epub 2017 Mar 20. Review.

15.

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

Agarwal N, Tekes A, Poretti A, Meoded A, Huisman TAGM.

Neuropediatrics. 2017 Oct;48(5):340-349. doi: 10.1055/s-0037-1603979. Epub 2017 Jul 6. Review. No abstract available.

PMID:
28683501
16.

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 MF, 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, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R.

Eur Radiol. 2017 Dec;27(12):5080-5092. doi: 10.1007/s00330-017-4945-2. Epub 2017 Jul 4. Erratum in: Eur Radiol. 2017 Sep 12;:.

PMID:
28677066
17.

Sensitivity of susceptibility-weighted imaging in detecting developmental venous anomalies and associated cavernomas and microhemorrhages in children.

Young A, Poretti A, Bosemani T, Goel R, Huisman TAGM.

Neuroradiology. 2017 Aug;59(8):797-802. doi: 10.1007/s00234-017-1867-2. Epub 2017 Jun 30.

PMID:
28667359
18.

Blake's pouch cyst in children: Atypical clinical presentation.

Bontognali M, Poretti A, Guzman R, Huisman TA, Ramelli GP.

Neuroradiol J. 2018 Aug;31(4):430-433. doi: 10.1177/1971400917698855. Epub 2017 Jun 27.

19.

Novel Contrast-Enhanced Ultrasound Evaluation in Neonatal Hypoxic Ischemic Injury: Clinical Application and Future Directions.

Hwang M, De Jong RM Jr, Herman S, Boss R, Riggs B, Tekes-Brady A, Spevak M, Poretti A, Soares BP, Bailey CR, Dunn E, Shin SS, Shrot S, Huisman TAGM.

J Ultrasound Med. 2017 Nov;36(11):2379-2386. doi: 10.1002/jum.14289. Epub 2017 Jun 26.

PMID:
28649730
20.

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 AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0. No abstract available.

PMID:
28600669
21.

ACCIDENTAL DUPLICATION: MR Imaging Findings in Children with Spasmus Nutans.

Bowen M, Peragallo J, Kralik SF, Poretti A, Huisman TAGM, Soares BP.

J AAPOS. 2017 Jun 3. pii: S1091-8531(16)30446-3. doi: 10.1016/j.jaapos.2016.11.028. [Epub ahead of print]

PMID:
28587881
22.

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.

Neuropediatrics. 2017 Oct;48(5):350-355. doi: 10.1055/s-0037-1603516. Epub 2017 Jun 1. No abstract available.

PMID:
28571098
23.

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

Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Vilboux T, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12.

24.

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 LC Jr.

Jpn J Radiol. 2017 Jul;35(7):341-349. doi: 10.1007/s11604-017-0641-z. Epub 2017 Apr 26. Review.

PMID:
28447317
25.

Acute brain injury following illicit drug abuse in adolescent and young adult patients: spectrum of neuroimaging findings.

Shrot S, Poretti A, Tucker EW, Soares BP, Huisman TA.

Neuroradiol J. 2017 Apr;30(2):144-150. doi: 10.1177/1971400917691994. Epub 2017 Jan 1.

26.

The structural connectome in children: basic concepts, how to build it, and synopsis of challenges for the developing pediatric brain.

Meoded A, Huisman TAGM, Casamassima MGS, Jallo GI, Poretti A.

Neuroradiology. 2017 May;59(5):445-460. doi: 10.1007/s00234-017-1831-1. Epub 2017 Apr 5. Review.

PMID:
28382501
27.

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

de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium.

J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24. Erratum in: J Inherit Metab Dis. 2017 Jun 9;:.

PMID:
28341975
28.

Magnetic resonance imaging to diagnose leptomeningeal spread of medulloblastoma in children: Decreasing diagnostic uncertainty, moving in new directions.

Soares BP, Poretti A, Huisman TAGM.

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26514. Epub 2017 Mar 23. No abstract available.

PMID:
28333414
29.

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 SF, Cohen JS, Meoded A, Juusola J, Triulzi FM, Huisman TAGM, Poretti A, Fatemi A.

Pediatr Neurol. 2017 May;70:70-74. doi: 10.1016/j.pediatrneurol.2017.01.018. Epub 2017 Feb 2.

PMID:
28286008
30.

Magnetic resonance imaging findings in children with spasmus nutans.

Bowen M, Peragallo JH, Kralik SF, Poretti A, Huisman TAGM, Soares BP.

J AAPOS. 2017 Apr;21(2):127-130. doi: 10.1016/j.jaapos.2017.03.001. Epub 2017 Mar 8.

PMID:
28284856
31.

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

Masson R, Piretti E, Pellegrin S, Gusson E, Poretti A, Valente EM, Cantalupo G.

Neurology. 2017 Apr 11;88(15):1478-1479. doi: 10.1212/WNL.0000000000003823. Epub 2017 Mar 10. No abstract available.

PMID:
28283601
32.

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

Soares BP, Calloni SF, Shrot S, Poretti A.

Neuropediatrics. 2017 Oct;48(5):398-399. doi: 10.1055/s-0037-1600111. Epub 2017 Mar 2. No abstract available.

PMID:
28255964
33.

In Reply.

Adami RR, Grundy ME, Poretti A, Felling RJ, Lemmon M, Graham EM.

Obstet Gynecol. 2017 Feb;129(2):389-390. doi: 10.1097/AOG.0000000000001885. No abstract available.

PMID:
28121823
34.

Diffusion Tensor Imaging Detects Occult Cerebellar Injury in Severe Neonatal Hypoxic-Ischemic Encephalopathy.

Lemmon ME, Wagner MW, Bosemani T, Carson KA, Northington FJ, Huisman TAGM, Poretti A.

Dev Neurosci. 2017;39(1-4):207-214. doi: 10.1159/000454856. Epub 2017 Jan 18.

35.

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

Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Cullinane AR, Vilboux T, Gahl WA, Gunay-Aygun M.

J Med Genet. 2017 Aug;54(8):521-529. doi: 10.1136/jmedgenet-2016-104425. Epub 2017 Jan 13.

PMID:
28087721
36.

Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

Zare Mehrjardi M, Poretti A, Huisman TA, Werner H, Keshavarz E, Araujo Júnior E.

Jpn J Radiol. 2017 Mar;35(3):89-94. doi: 10.1007/s11604-016-0609-4. Epub 2017 Jan 10.

PMID:
28074379
37.

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

Franco IA, Aragão MM, Poretti A, Silva MCVD, Diogo WJDG, Masruha MR.

Neuropediatrics. 2017 Oct;48(5):396-397. doi: 10.1055/s-0036-1597674. Epub 2016 Dec 26. No abstract available.

PMID:
28024308
38.

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.

Wagner MW, Poretti A, Benson JE, Huisman TA.

J Neuroimaging. 2017 Mar;27(2):162-209. doi: 10.1111/jon.12413. Epub 2016 Dec 21. Review.

PMID:
28000960
39.

Optimizing Cerebral Autoregulation May Decrease Neonatal Regional Hypoxic-Ischemic Brain Injury.

Lee JK, Poretti A, Perin J, Huisman TAGM, Parkinson C, Chavez-Valdez R, O'Connor M, Reyes M, Armstrong J, Jennings JM, Gilmore MM, Koehler RC, Northington FJ, Tekes A.

Dev Neurosci. 2017;39(1-4):248-256. doi: 10.1159/000452833. Epub 2016 Dec 16.

40.

Neurocognitive Functions and Behavior in Joubert Syndrome.

Poretti A, Gerner GJ.

Pediatr Neurol Briefs. 2016 Dec;30(12):47.

41.

Tumor and Tumorlike Masses in Pediatric Patients that Involve Multiple Spaces.

Bosemani T, Poretti A.

Neuroimaging Clin N Am. 2017 Feb;27(1):135-153. doi: 10.1016/j.nic.2016.08.006. Review.

PMID:
27889020
42.

Deregulated expression of EZH2 in congenital brainstem disconnection.

Barth PG, Aronica E, Fox S, Fluiter K, Weterman MAJ, Poretti A, Miller DC, Boltshauser E, Harding B, Santi M, Baas F.

Neuropathol Appl Neurobiol. 2017 Jun;43(4):358-365. doi: 10.1111/nan.12368. No abstract available.

PMID:
27886392
43.

Case 236: Middle Interhemispheric Variant of Holoprosencephaly.

Yahyavi-Firouz-Abadi N, Poretti A, Idowu OR, Hoon AH Jr, Huisman TA, Izbudak I.

Radiology. 2016 Dec;281(3):969-974.

PMID:
27870630
44.

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 AJ, Limperopoulos C.

J Pediatr. 2017 Mar;182:28-33.e1. doi: 10.1016/j.jpeds.2016.10.034. Epub 2016 Nov 11.

PMID:
27843009
45.

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

Zare Mehrjardi M, Poretti A, Keshavarz E.

Jpn J Radiol. 2017 Jan;35(1):41-42. doi: 10.1007/s11604-016-0599-2. Epub 2016 Nov 9. No abstract available.

PMID:
27830429
46.

Neuroimaging findings of Zika virus infection: a review article.

Zare Mehrjardi M, Keshavarz E, Poretti A, Hazin AN.

Jpn J Radiol. 2016 Dec;34(12):765-770. Epub 2016 Oct 6. Review.

PMID:
27714487
47.

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment.

McNally MA, Johnson J, Huisman TA, Poretti A, Baranano KW, Baschat AA, Stafstrom CE.

Pediatr Neurol. 2016 Nov;64:87-91. doi: 10.1016/j.pediatrneurol.2016.08.003. Epub 2016 Aug 16.

PMID:
27659738
48.

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

Poretti A, Meoded A, Fatemi A.

J Neurosci Res. 2016 Nov;94(11):1108-15. doi: 10.1002/jnr.23769. Review.

PMID:
27638596
49.

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

Adami RR, Grundy ME, Poretti A, Felling RJ, Lemmon M, Graham EM.

Obstet Gynecol. 2016 Oct;128(4):704-12. doi: 10.1097/AOG.0000000000001631.

50.

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

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A.

Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10.

PMID:
27598823

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