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Items: 1 to 50 of 378

1.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Aug 10. pii: S1090-3798(19)30027-3. doi: 10.1016/j.ejpn.2019.08.004. [Epub ahead of print]

PMID:
31481303
2.

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.

Brain. 2019 Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182.

PMID:
31332433
3.

VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern.

Wilker M, Christen HJ, Schuster S, Abicht A, Boltshauser E.

Neuropediatrics. 2019 Jul 1. doi: 10.1055/s-0039-1688953. [Epub ahead of print] No abstract available.

PMID:
31261436
4.

Differential Diagnosis in Neurology and Neurosurgery: A Clinician's Pocket Guide.

Boltshauser E.

Neuropediatrics. 2019 Aug;50(4):271-272. doi: 10.1055/s-0039-1688766. Epub 2019 May 2. No abstract available.

PMID:
31049902
5.

Cranial Neuroimaging and Clinical Neuroanatomy.

Boltshauser E.

Neuropediatrics. 2019 Jun;50(3):209-210. doi: 10.1055/s-0039-1685215. Epub 2019 Apr 2. No abstract available.

PMID:
30939598
6.

Clinical Pathways in Neuro-Ophthalmology.

Boltshauser E.

Neuropediatrics. 2019 Jun;50(3):208. doi: 10.1055/s-0039-1684005. Epub 2019 Mar 26. No abstract available.

PMID:
30913568
7.

Aicardi's Diseases of the Nervous System in Childhood.

Boltshauser E.

Neuropediatrics. 2019 Jun;50(3):207. doi: 10.1055/s-0039-1683412. Epub 2019 Mar 15. No abstract available.

PMID:
30875699
8.

Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla.

Kau T, Birnbacher R, Schwärzler P, Habernig S, Deutschmann H, Boltshauser E.

Cerebellum Ataxias. 2019 Mar 5;6:4. doi: 10.1186/s40673-019-0098-1. eCollection 2019.

9.

RadCases Plus Q&A Neuro Imaging.

Boltshauser E.

Neuropediatrics. 2019 Jun;50(3):206. doi: 10.1055/s-0039-1683413. Epub 2019 Mar 7. No abstract available.

PMID:
30847875
10.

Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations.

Sukhudyan B, Gevorgyan A, Sarkissian A, Boltshauser E.

Eur J Paediatr Neurol. 2019 May;23(3):537-540. doi: 10.1016/j.ejpn.2019.02.002. Epub 2019 Feb 14.

PMID:
30799093
11.

Area Postrema: Fetal Maturation, Tumors, Vomiting Center, Growth, Role in Neuromyelitis Optica.

Sarnat HB, Flores-Sarnat L, Boltshauser E.

Pediatr Neurol. 2019 May;94:21-31. doi: 10.1016/j.pediatrneurol.2018.12.006. Epub 2018 Dec 25.

PMID:
30797593
12.

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
13.

Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia.

Hackenberg A, Wagner M, Pahnke J, Zeitler P, Boltshauser E.

Neuropediatrics. 2018 Oct;49(5):356. doi: 10.1055/s-0038-1661343. Epub 2018 Jun 18. No abstract available.

PMID:
29913530
14.

Laboratory investigations.

Boltshauser E, Weber KP.

Handb Clin Neurol. 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. Review.

PMID:
29903445
15.

Nonprogressive congenital ataxias.

Bertini E, Zanni G, Boltshauser E.

Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Review.

PMID:
29891079
16.

Drug treatment.

Perlman S, Boltshauser E.

Handb Clin Neurol. 2018;155:371-377. doi: 10.1016/B978-0-444-64189-2.00024-X. Review.

PMID:
29891072
17.

Rhoton's Atlas of Head, Neck, and Brain.

Boltshauser E.

Neuropediatrics. 2018 Aug;49(4):298. doi: 10.1055/s-0038-1657758. Epub 2018 May 31. No abstract available.

PMID:
29852511
18.

Infantile Basal Ganglia Stroke after Mild Head Trauma Associated with Mineralizing Angiopathy of Lenticulostriate Arteries: An Under Recognized Entity.

Toelle SP, Avetisyan T, Kuyumjyan N, Sukhudyan B, Boltshauser E, Hackenberg A.

Neuropediatrics. 2018 Aug;49(4):262-268. doi: 10.1055/s-0038-1649501. Epub 2018 May 23.

PMID:
29791933
19.

Neuroimaging Findings of Organic Acidemias and Aminoacidopathies.

Reddy N, Calloni SF, Vernon HJ, Boltshauser E, Huisman TAGM, Soares BP.

Radiographics. 2018 May-Jun;38(3):912-931. doi: 10.1148/rg.2018170042. Review.

PMID:
29757724
20.

Torcular Pseudomass.

Boltshauser E, Toelle SP, Scheer I, Hackenberg A.

Neuropediatrics. 2018 Jun;49(3):225-226. doi: 10.1055/s-0038-1635076. Epub 2018 Feb 27. No abstract available.

PMID:
29486503
21.

Brain Arteriovenous Malformations and Arteriovenous Fistulas.

Boltshauser E.

Neuropediatrics. 2018 Jun;49(3):227-228. doi: 10.1055/s-0038-1635122. Epub 2018 Feb 26. No abstract available.

PMID:
29482253
22.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A.

Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10.

23.

Pediatric Spinal Deformities.

Boltshauser E.

Neuropediatrics. 2018 Apr;49(2):160. doi: 10.1055/s-0037-1608924. Epub 2017 Nov 29. No abstract available.

PMID:
29186744
24.

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
25.

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
26.

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
27.

MR Neuroimaging: Brain, Spine, Peripheral Nerves.

Boltshauser E.

Neuropediatrics. 2017 Jun;48(3):207-208. doi: 10.1055/s-0037-1602659. Epub 2017 May 3. No abstract available.

PMID:
28470648
28.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hübner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hübner C, Kaindl AM.

PLoS Genet. 2017 Apr 28;13(4):e1006746. doi: 10.1371/journal.pgen.1006746. eCollection 2017 Apr.

29.

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.

Picker-Minh S, Hartenstein S, Proquitté H, Fröhler S, Raile V, Kraemer N, Apeshiotis S, Leipoldt M, Kalache KD, Morris-Rosendahl D, Boltshauser E, Chen W, Kaindl AM.

J Child Neurol. 2017 Mar;32(3):334-340. doi: 10.1177/0883073816680748. Epub 2016 Dec 20. Review.

PMID:
28193110
30.

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.

Hackenberg A, Boltshauser E, Gerth-Kahlert C, Stahr N, Azzarello-Burri S, Plecko B.

Neuropediatrics. 2017 Feb;48(1):57-58. doi: 10.1055/s-0036-1597610. Epub 2016 Dec 26. No abstract available.

PMID:
28024310
31.

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
32.

Neuroendocrine Disorders in Children.

Boltshauser E.

Neuropediatrics. 2016 Dec;47(6):413-414. Epub 2016 Nov 4. No abstract available.

PMID:
27824407
33.

Quality of life after paediatric ischaemic stroke.

Kornfeld S, Studer M, Winkelbeiner S, Regényi M, Boltshauser E, Steinlin M; Swiss Neuropediatric Stroke group.

Dev Med Child Neurol. 2017 Jan;59(1):45-51. doi: 10.1111/dmcn.13295. Epub 2016 Oct 21.

34.

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

Wente S, Schröder S, Buckard J, Büttel HM, von Deimling F, Diener W, Häussler M, Hübschle S, Kinder S, Kurlemann G, Kretzschmar C, Lingen M, Maroske W, Mundt D, Sánchez-Albisua I, Seeger J, Toelle SP, Boltshauser E, Brockmann K.

Orphanet J Rare Dis. 2016 Jul 29;11(1):104. doi: 10.1186/s13023-016-0486-z.

35.

Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury.

Poretti A, Boltshauser E, Huisman TA.

Neuroimaging Clin N Am. 2016 Aug;26(3):359-72. doi: 10.1016/j.nic.2016.03.006. Review.

PMID:
27423799
36.

Cerebellar and Brainstem Malformations.

Poretti A, Boltshauser E, Huisman TA.

Neuroimaging Clin N Am. 2016 Aug;26(3):341-57. doi: 10.1016/j.nic.2016.03.005. Review.

PMID:
27423798
37.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.

Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Review.

PMID:
27377014
38.

The Placenta and Neurodisability.

Boltshauser E.

Neuropediatrics. 2016 Aug;47(4):280. doi: 10.1055/s-0036-1584565. Epub 2016 Jun 14. No abstract available.

PMID:
27299366
39.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM.

J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6.

40.

Chiari Malformations and Syringohydromyelia in Children.

Poretti A, Boltshauser E, Huisman TA.

Semin Ultrasound CT MR. 2016 Apr;37(2):129-42. doi: 10.1053/j.sult.2015.12.001. Epub 2015 Dec 10. Review.

PMID:
27063663
41.

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 FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM.

Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2.

42.

A Message to the Readers of Neuropediatrics.

Neubauer B, Plecko B, Boltshauser E.

Neuropediatrics. 2016 Jan;47(1):1-2. doi: 10.1055/s-0035-1571260. Epub 2016 Jan 22. No abstract available.

PMID:
26800375
43.

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement.

Klein JL, Lemmon ME, Northington FJ, Boltshauser E, Huisman TA, Poretti A.

Cerebellum Ataxias. 2016 Jan 13;3:1. doi: 10.1186/s40673-016-0039-1. eCollection 2016. Review.

44.

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.

Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ.

Genet Med. 2016 Aug;18(8):788-95. doi: 10.1038/gim.2015.161. Epub 2015 Dec 10.

45.

Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them?

Bosemani T, Steinlin M, Toelle SP, Beck J, Boltshauser E, Huisman TA, Poretti A.

Childs Nerv Syst. 2016 May;32(5):865-71. doi: 10.1007/s00381-015-2977-y. Epub 2015 Dec 9.

PMID:
26649682
46.

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.

Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, Bittner RE.

Am J Hum Genet. 2015 Dec 3;97(6):855-61. doi: 10.1016/j.ajhg.2015.10.011. Epub 2015 Nov 12.

47.

Fetal Diagnosis of Rhombencephalosynapsis.

Poretti A, Boltshauser E.

Neuropediatrics. 2015 Dec;46(6):357-8. doi: 10.1055/s-0035-1566754. Epub 2015 Nov 4. No abstract available.

PMID:
26535873
48.

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.

Cerebellum. 2016 Dec;15(6):705-709.

PMID:
26525217
49.

47 patients with FLNA associated periventricular nodular heterotopia.

Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U.

Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9.

50.

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.

Poretti A, Wolf NI, Boltshauser E.

Neuropediatrics. 2015 Dec;46(6):359-70. doi: 10.1055/s-0035-1564620. Epub 2015 Oct 7.

PMID:
26444039

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