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Items: 1 to 50 of 116

1.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Ciaccio C, Castello R, Esposito S, Pinelli M, Nigro V, Casari G, Chiapparini L, Pantaleoni C; TUDP Study Group, D'Arrigo S.

Cerebellum. 2019 Oct;18(5):972-975. doi: 10.1007/s12311-019-01069-7.

PMID:
31410782
2.

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Masnada S, Groenweg S, Saletti V, Chiapparini L, Castellotti B, Salsano E, Visser WE, Tonduti D.

Metab Brain Dis. 2019 Jul 22. doi: 10.1007/s11011-019-00464-7. [Epub ahead of print]

PMID:
31332729
3.

Chiari 1 malformation and untreated sagittal synostosis: a new subset of complex Chiari?

Valentini LG, Saletti V, Erbetta A, Chiapparini L, Furlanetto M.

Childs Nerv Syst. 2019 Oct;35(10):1741-1753. doi: 10.1007/s00381-019-04283-0. Epub 2019 Jul 21.

PMID:
31327038
4.

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C.

J Clin Med. 2019 May 26;8(5). pii: E750. doi: 10.3390/jcm8050750.

5.

Iatrogenic early onset cerebral amyloid angiopathy 30 years after cerebral trauma with neurosurgery: vascular amyloid deposits are made up of both Aβ40 and Aβ42.

Giaccone G, Maderna E, Marucci G, Catania M, Erbetta A, Chiapparini L, Indaco A, Caroppo P, Bersano A, Parati E, Di Fede G, Caputi L.

Acta Neuropathol Commun. 2019 May 2;7(1):70. doi: 10.1186/s40478-019-0719-1. No abstract available.

6.

Cluster headache: insights from resting-state functional magnetic resonance imaging.

Ferraro S, Nigri A, Bruzzone MG, Demichelis G, Pinardi C, Brivio L, Giani L, Proietti A, Leone M, Chiapparini L.

Neurol Sci. 2019 May;40(Suppl 1):45-47. doi: 10.1007/s10072-019-03874-8. Review.

PMID:
30941629
7.

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.

Tonduti D, Izzo G, D'Arrigo S, Riva D, Moroni I, Zorzi G, Cavallera V, Pichiecchio A, Uggetti C, Veggiotti P, Orcesi S, Chiapparini L, Parazzini C.

Mol Genet Metab. 2019 Apr;126(4):489-494. doi: 10.1016/j.ymgme.2019.02.006. Epub 2019 Feb 25.

PMID:
30826161
8.

Sleeve-Shaped Neurothekeoma of the Ulnar Nerve: A Unique Case of a Still Unclear Pathological Entity.

Vetrano IG, Levi V, Pollo B, Chiapparini L, Messina G, Nazzi V.

Hand (N Y). 2019 Feb 14:1558944719828008. doi: 10.1177/1558944719828008. [Epub ahead of print]

PMID:
30762430
9.

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

Russo C, Ardissone A, Freri E, Gasperini S, Moscatelli M, Zorzi G, Panteghini C, Castellotti B, Garavaglia B, Nardocci N, Chiapparini L.

Mov Disord Clin Pract. 2018 Nov 9;6(1):51-56. doi: 10.1002/mdc3.12693. eCollection 2019 Jan.

PMID:
30746416
10.

Lumbar epidural blood patch: effectiveness on orthostatic headache and MRI predictive factors in 101 consecutive patients affected by spontaneous intracranial hypotension.

Levi V, Di Laurenzio NE, Franzini A, Tramacere I, Erbetta A, Chiapparini L, D'Amico D, Franzini A, Messina G.

J Neurosurg. 2019 Feb 8:1-9. doi: 10.3171/2018.10.JNS181597. [Epub ahead of print]

PMID:
30738382
11.

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Canafoglia L, Castellotti B, Ragona F, Freri E, Granata T, Chiapparini L, Gellera C, Scaioli V, Franceschetti S, DiFrancesco JC.

Seizure. 2019 Feb;65:106-108. doi: 10.1016/j.seizure.2019.01.005. Epub 2019 Jan 8. No abstract available.

PMID:
30660924
12.

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Ciaccio C, Saletti V, D'Arrigo S, Esposito S, Alfei E, Moroni I, Tonduti D, Chiapparini L, Pantaleoni C, Milani D.

Eur J Med Genet. 2018 Dec 4. pii: S1769-7212(18)30424-5. doi: 10.1016/j.ejmg.2018.12.001. [Epub ahead of print]

PMID:
30528446
13.

Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B, Orcesi S.

Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y.

14.

Pediatric intracranial ependymoma: correlating signs and symptoms at recurrence with outcome in the second prospective AIEOP protocol follow-up.

Massimino M, Barretta F, Modena P, Giangaspero F, Chiapparini L, Erbetta A, Boschetti L, Antonelli M, Ferroli P, Bertin D, Pecori E, Biassoni V, Garrè ML, Schiavello E, Sardi I, Viscardi E, Scarzello G, Mascarin M, Quaglietta L, Cinalli G, Genitori L, Peretta P, Mussano A, Barra S, Mastronuzzi A, Giussani C, Marras CE, Balter R, Bertolini P, Tornesello A, La Spina M, Buttarelli FR, Ruggiero A, Caldarelli M, Poggi G, Gandola L.

J Neurooncol. 2018 Nov;140(2):457-465. doi: 10.1007/s11060-018-2974-6. Epub 2018 Aug 14.

PMID:
30109673
15.

Headache frequency and symptoms of depression as predictors of disability in patients with idiopathic intracranial hypertension.

Raggi A, Marzoli SB, Chiapparini L, Ciasca P, Erbetta A, Faragò G, Grazzi L, Leonardi M, D'Amico D.

Neurol Sci. 2018 Jun;39(Suppl 1):139-140. doi: 10.1007/s10072-018-3361-y. No abstract available.

PMID:
29904836
16.

Conventional MRI.

Arrigoni F, Calloni S, Huisman TAGM, Chiapparini L.

Handb Clin Neurol. 2018;154:219-234. doi: 10.1016/B978-0-444-63956-1.00013-8. Review.

PMID:
29903441
17.

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D.

Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Review.

18.

The importance of specific rehabilitation for an obese patient with idiopathic intracranial hypertension: a case report.

Raggi A, Grazzi L, Bianchi Marzoli S, Ciasca P, Chiapparini L, Erbetta A, Faragò G, Leonardi M, D'Amico D.

Int J Rehabil Res. 2018 Jun;41(2):183-185. doi: 10.1097/MRR.0000000000000277.

PMID:
29538049
19.

Defective functional connectivity between posterior hypothalamus and regions of the diencephalic-mesencephalic junction in chronic cluster headache.

Ferraro S, Nigri A, Bruzzone MG, Brivio L, Proietti Cecchini A, Verri M, Chiapparini L, Leone M.

Cephalalgia. 2018 Nov;38(13):1910-1918. doi: 10.1177/0333102418761048. Epub 2018 Mar 8.

PMID:
29517304
20.

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

Tonduti D, Invernizzi F, Panteghini C, Pinelli L, Battaglia S, Fazzi E, Zorzi G, Moroni I, Garavaglia B, Chiapparini L, Nardocci N.

Eur J Paediatr Neurol. 2018 Mar;22(2):332-335. doi: 10.1016/j.ejpn.2017.11.012. Epub 2017 Dec 16.

PMID:
29287834
21.

Boomerang-shaped hemorrhage of the splenium of corpus callosum after mild brain injury: an unusual case of delayed hematoma.

Bagatti D, Nazzi V, Egitto MG, Franzini A, Chiapparini L.

J Neurosurg Sci. 2019 Oct;63(5):611-612. doi: 10.23736/S0390-5616.17.04270-9. Epub 2017 Dec 4. No abstract available.

PMID:
29205010
22.

Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease.

Chiapparini L, Cavalli G, Langella T, Venerando A, De Luca G, Raspante S, Marotta G, Pollo B, Lauria G, Cangi MG, Gerevini S, Botturi A, Pareyson D, Dagna L, Salsano E.

J Neurol. 2018 Feb;265(2):273-284. doi: 10.1007/s00415-017-8692-8. Epub 2017 Dec 4.

PMID:
29204962
23.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.

Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28.

24.

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Esposito S, Carecchio M, Tonduti D, Saletti V, Panteghini C, Chiapparini L, Zorzi G, Pantaleoni C, Garavaglia B, Krainc D, Lubbe SJ, Nardocci N, Mencacci NE.

Mov Disord. 2017 Nov;32(11):1646-1647. doi: 10.1002/mds.27175. Epub 2017 Sep 26. No abstract available.

PMID:
28949041
25.

Epileptic spikes in Rasmussen's encephalitis: Migratory pattern and short-term evolution. A MEG study.

Rossi Sebastiano D, Visani E, Duran D, Freri E, Panzica F, Chiapparini L, Ragona F, Granata T, Franceschetti S.

Clin Neurophysiol. 2017 Oct;128(10):1898-1905. doi: 10.1016/j.clinph.2017.07.401. Epub 2017 Jul 28.

PMID:
28826020
26.

Thiamine-responsive disease due to mutation of tpk1: Importance of avoiding misdiagnosis.

Invernizzi F, Panteghini C, Chiapparini L, Moroni I, Nardocci N, Garavaglia B, Tonduti D.

Neurology. 2017 Aug 22;89(8):870-871. doi: 10.1212/WNL.0000000000004270. Epub 2017 Jul 26. No abstract available.

PMID:
28747443
27.

Cranial ultrasound is a reliable first step imaging in children with suspected craniosynostosis.

Pogliani L, Zuccotti GV, Furlanetto M, Giudici V, Erbetta A, Chiapparini L, Valentini L.

Childs Nerv Syst. 2017 Sep;33(9):1545-1552. doi: 10.1007/s00381-017-3449-3. Epub 2017 Jun 3.

PMID:
28578511
28.

Chiari malformation type 1-related headache: the importance of a multidisciplinary study.

Curone M, Valentini LG, Vetrano I, Beretta E, Furlanetto M, Chiapparini L, Erbetta A, Bussone G.

Neurol Sci. 2017 May;38(Suppl 1):91-93. doi: 10.1007/s10072-017-2915-8.

PMID:
28527081
29.

Chiari malformation-related headache: outcome after surgical treatment.

Beretta E, Vetrano IG, Curone M, Chiapparini L, Furlanetto M, Bussone G, Valentini LG.

Neurol Sci. 2017 May;38(Suppl 1):95-98. doi: 10.1007/s10072-017-2950-5.

PMID:
28527074
30.

Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Saletti V, Esposito S, Maccaro A, Giglio S, Valentini LG, Chiapparini L.

Eur J Med Genet. 2017 May;60(5):261-264. doi: 10.1016/j.ejmg.2017.03.002. Epub 2017 Mar 7.

PMID:
28286253
31.

Low-signal intensity on MRI in the globus pallidus in children with long-term oral manganese exposure.

Chiapparini L, Pigatto PD, Guzzi G.

Neurotoxicology. 2017 Jan;58:92-93. doi: 10.1016/j.neuro.2016.11.013. Epub 2016 Nov 27. No abstract available.

PMID:
27899305
32.

Severe Pain and Edema due to a Widespread Lymphangioma: Disappearance of Symptoms and Reduction of Lesion with Spinal Cord Stimulation.

Dones I, Zanin L, Marongiu I, Levi V, Chiapparini L, Rizzi M.

World Neurosurg. 2016 Sep;93:487.e1-3. doi: 10.1016/j.wneu.2016.06.129. Epub 2016 Jul 8.

PMID:
27402439
33.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Tonduti D, Orcesi S, Jenkinson EM, Dorboz I, Renaldo F, Panteghini C, Rice GI, Henneke M, Livingston JH, Elmaleh M, Burglen L, Willemsen MA, Chiapparini L, Garavaglia B, Rodriguez D, Boespflug-Tanguy O, Moroni I, Crow YJ.

Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7.

PMID:
27091087
34.

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N.

Curr Neurol Neurosci Rep. 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. Review.

PMID:
27074771
35.

A 52-Year-Old Man with Myoclonic Jerks.

Giaccone G, Carella F, Parravicini C, Longhi E, Chiapparini L, Savoiardo M, Montano N, Morbin M, Albanese A, Tagliavini F.

Brain Pathol. 2016 Mar;26(2):291-2. doi: 10.1111/bpa.12359. No abstract available.

PMID:
27000489
36.

Impact of obesity and binge eating disorder on patients with idiopathic intracranial hypertension.

Raggi A, Curone M, Bianchi Marzoli S, Chiapparini L, Ciasca P, Ciceri EF, Erbetta A, Faragò G, Leonardi M, D'Amico D.

Cephalalgia. 2017 Mar;37(3):278-283. doi: 10.1177/0333102416640514. Epub 2016 Jul 11.

PMID:
26994301
37.

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

Sagnelli A, Magri S, Farina L, Chiapparini L, Marotta G, Tonduti D, Consonni M, Scigliuolo GM, Benti R, Pareyson D, Taroni F, Salsano E, Di Bella D.

J Neurol. 2016 Mar;263(3):591-3. doi: 10.1007/s00415-016-8020-8. Epub 2016 Jan 25. No abstract available.

PMID:
26810722
38.

Intrathecal synthesis of onconeural antibodies in patients with paraneoplastic syndromes.

Corsini E, Gaviani P, Chiapparini L, Lazzaroni M, Ciusani E, Bisogno R, Silvani A, Salmaggi A, Bernardi G.

J Neuroimmunol. 2016 Jan 15;290:119-22. doi: 10.1016/j.jneuroim.2015.11.016. Epub 2015 Nov 22.

PMID:
26711581
39.

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S.

Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26.

40.

Persistent orthostatic headache without intracranial hypotension: which treatment?

Curone M, Cecchini AP, Chiapparini L, D'Amico D.

Neurol Sci. 2015 May;36 Suppl 1:153-5. doi: 10.1007/s10072-015-2170-9.

PMID:
26017533
41.

Resting state fMRI in cluster headache: which role?

Chiapparini L, Ferraro S, Nigri A, Proietti A, Bruzzone MG, Leone M.

Neurol Sci. 2015 May;36 Suppl 1:47-50. doi: 10.1007/s10072-015-2129-x. Review.

PMID:
26017511
42.

Low-Functioning Autism and Nonsyndromic Intellectual Disability: Magnetic Resonance Imaging (MRI) Findings.

Erbetta A, Bulgheroni S, Contarino VE, Chiapparini L, Esposito S, Annunziata S, Riva D.

J Child Neurol. 2015 Oct;30(12):1658-63. doi: 10.1177/0883073815578523. Epub 2015 Apr 20.

PMID:
25895913
43.

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Baranello G, Saredi S, Sansanelli S, Savadori P, Canioni E, Chiapparini L, Balestri P, Malandrini A, Arnoldi MT, Pantaleoni C, Morandi L, Mora M.

Neuromuscul Disord. 2015 Jan;25(1):55-9. doi: 10.1016/j.nmd.2014.08.007. Epub 2014 Sep 10.

PMID:
25444434
44.

Intracranial idiopathic hypertension: 1-year follow-up study.

D'Amico D, Curone M, Erbetta A, Farago' G, Bianchi-Marzoli S, Ciasca P, Bussone G, Chiapparini L.

Neurol Sci. 2014 May;35 Suppl 1:177-9. doi: 10.1007/s10072-014-1765-x.

PMID:
24867861
45.

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.

Sagnelli A, Piscosquito G, Chiapparini L, Ciano C, Salsano E, Saveri P, Milani M, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2014 Jun;19(2):183-6. doi: 10.1111/jns5.12070.

PMID:
24863494
46.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C.

Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.

PMID:
24833714
47.

The Italian Alzheimer's Disease Neuroimaging Initiative (I-ADNI): validation of structural MR imaging.

Cavedo E, Redolfi A, Angeloni F, Babiloni C, Lizio R, Chiapparini L, Bruzzone MG, Aquino D, Sabatini U, Alesiani M, Cherubini A, Salvatore E, Soricelli A, Vernieri F, Scrascia F, Sinforiani E, Chiarati P, Bastianello S, Montella P, Corbo D, Tedeschi G, Marino S, Baglieri A, De Salvo S, Carducci F, Quattrocchi CC, Cobelli M, Frisoni GB.

J Alzheimers Dis. 2014;40(4):941-52. doi: 10.3233/JAD-132666.

PMID:
24577455
48.

Locked-in syndrome after basilary artery thrombosis by mucormycosis masquerading as meningoencephalitis in a lymphoma patient.

Maffini F, Cocorocchio E, Pruneri G, Bonomo G, Peccatori F, Chiapparini L, Vincenzo SD, Martinelli G, Viale G.

Ecancermedicalscience. 2013 Dec 19;7:382. doi: 10.3332/ecancer.2013.382. eCollection 2013.

49.

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V.

Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19.

50.

Neuroimaging findings in 41 low-functioning children with autism spectrum disorder: a single-center experience.

Erbetta A, Bulgheroni S, Contarino V, Chiapparini L, Esposito S, Vago C, Riva D.

J Child Neurol. 2014 Dec;29(12):1626-31. doi: 10.1177/0883073813511856. Epub 2013 Dec 16.

PMID:
24346312

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