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Items: 1 to 50 of 368

1.

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 Jun 18. doi: 10.1055/s-0038-1661343. [Epub ahead of print] No abstract available.

PMID:
29913530
2.

Laboratory investigations.

Boltshauser E, Weber KP.

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

PMID:
29903445
3.

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.

PMID:
29891079
4.

Drug treatment.

Perlman S, Boltshauser E.

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

PMID:
29891072
5.

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
6.

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
7.

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.

PMID:
29757724
8.

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
9.

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
10.

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.

11.

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
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.

Erratum: Pediatric Neuroradiology: Clinical Practice Essentials.

Boltshauser E.

Neuropediatrics. 2017 Aug 9. doi: 10.1055/s-0037-1606241. [Epub ahead of print] No abstract available.

PMID:
28793358
14.

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
15.

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
16.

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
17.

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.

18.

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
19.

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
20.

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
21.

Neuroendocrine Disorders in Children.

Boltshauser E.

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

PMID:
27824407
22.

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.

23.

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.

24.

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
25.

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
26.

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
27.

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
28.

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.

29.

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
30.

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.

31.

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
32.

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.

33.

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.

34.

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
35.

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.

36.

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
37.

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
38.

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.

39.

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
40.

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ.

Elife. 2015 Sep 19;4. pii: e08077. doi: 10.7554/eLife.08077.

41.

Terminology in morphological anomalies of the cerebellum does matter.

Poretti A, Boltshauser E.

Cerebellum Ataxias. 2015 Jul 7;2:8. doi: 10.1186/s40673-015-0027-x. eCollection 2015.

42.

Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.

Poretti A, Boltshauser E, Huisman TA.

Cerebellum. 2016 Feb;15(1):5-9. doi: 10.1007/s12311-015-0699-z. Review.

PMID:
26166429
43.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG.

Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602.

44.

Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI.

Amir T, Poretti A, Boltshauser E, Huisman TA.

Brain Dev. 2016 Jan;38(1):103-8. doi: 10.1016/j.braindev.2015.05.006. Epub 2015 May 23.

PMID:
26013959
45.

Incidence and outcomes of symptomatic neonatal arterial ischemic stroke.

Grunt S, Mazenauer L, Buerki SE, Boltshauser E, Mori AC, Datta AN, Fluss J, Mercati D, Keller E, Maier O, Poloni C, Ramelli GP, Schmitt-Mechelke T, Steinlin M.

Pediatrics. 2015 May;135(5):e1220-8. doi: 10.1542/peds.2014-1520. Epub 2015 Apr 20.

46.

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

Toelle SP, Poretti A, Weber P, Seute T, Bromberg JE, Scheer I, Boltshauser E.

Cerebellum. 2015 Dec;14(6):642-9. doi: 10.1007/s12311-015-0658-8.

PMID:
25728839
47.

Spinal Cord Injury in the Child and Young Adult.

Boltshauser E.

Neuropediatrics. 2015 Feb 20. [Epub ahead of print] No abstract available.

PMID:
25699548
48.

Brainstem disconnection: two additional patients and expansion of the phenotype.

Poretti A, Denecke J, Miller DC, Schiffmann H, Buhk JH, Grange DK, Doherty D, Boltshauser E.

Neuropediatrics. 2015 Apr;46(2):139-44. doi: 10.1055/s-0034-1544127. Epub 2015 Feb 11.

PMID:
25671339
49.

Longitudinally extensive myelopathy in children.

Sorte DE, Poretti A, Newsome SD, Boltshauser E, Huisman TA, Izbudak I.

Pediatr Radiol. 2015 Feb;45(2):244-57; quiz 241-3. doi: 10.1007/s00247-014-3225-4. Epub 2015 Jan 31. Review.

PMID:
25636706
50.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ.

Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23.

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