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Cranial Neuroimaging and Clinical Neuroanatomy.

Neuropediatrics

Boltshauser E.
PMID: 30939598
Neuropediatrics. 2019 Jun;50(3):209-210. doi: 10.1055/s-0039-1685215. Epub 2019 Apr 02.

No abstract available.

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Boltshauser E. Cranial Neuroimaging and Clinical Neuroanatomy. Neuropediatrics. 2019;50(3):209-210doi: 10.1055/s-0039-1685215.
Boltshauser, E. (2019). Cranial Neuroimaging and Clinical Neuroanatomy. Neuropediatrics, 50(3), 209-210. https://doi.org/10.1055/s-0039-1685215
Boltshauser, Eugen. "Cranial Neuroimaging and Clinical Neuroanatomy." Neuropediatrics vol. 50,3 (2019): 209-210. doi: https://doi.org/10.1055/s-0039-1685215
Boltshauser E. Cranial Neuroimaging and Clinical Neuroanatomy. Neuropediatrics. 2019 Jun;50(3):209-210. doi: 10.1055/s-0039-1685215. Epub 2019 Apr 02. PMID: 30939598.
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Identification of .

Brain communications

Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA.
PMID: 34423300
Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021.

Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallmark. We reviewed the clinical,...

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Powell L, Olinger E, Wedderburn S, et al. Identification of . Brain Commun. 2021;3(3):fcab163doi: 10.1093/braincomms/fcab163.
Powell, L., Olinger, E., Wedderburn, S., Ramakumaran, V. S., Kini, U., Clayton-Smith, J., Ramsden, S. C., Rice, S. J., Barroso-Gil, M., Wilson, I., Cowley, L., Johnson, S., Harris, E., Montgomery, T., Bertoli, M., Boltshauser, E., & Sayer, J. A. (2021). Identification of . Brain communications, 3(3), fcab163. https://doi.org/10.1093/braincomms/fcab163
Powell, Laura, et al. "Identification of ." Brain communications vol. 3,3 (2021): fcab163. doi: https://doi.org/10.1093/braincomms/fcab163
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA. Identification of . Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. PMID: 34423300; PMCID: PMC8374969.
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Identification of .

Brain communications

Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA.
PMID: 34423300
Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021.

Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallmark. We reviewed the clinical,...

Cite
Powell L, Olinger E, Wedderburn S, et al. Identification of . Brain Commun. 2021;3(3):fcab163doi: 10.1093/braincomms/fcab163.
Powell, L., Olinger, E., Wedderburn, S., Ramakumaran, V. S., Kini, U., Clayton-Smith, J., Ramsden, S. C., Rice, S. J., Barroso-Gil, M., Wilson, I., Cowley, L., Johnson, S., Harris, E., Montgomery, T., Bertoli, M., Boltshauser, E., & Sayer, J. A. (2021). Identification of . Brain communications, 3(3), fcab163. https://doi.org/10.1093/braincomms/fcab163
Powell, Laura, et al. "Identification of ." Brain communications vol. 3,3 (2021): fcab163. doi: https://doi.org/10.1093/braincomms/fcab163
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA. Identification of . Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. PMID: 34423300; PMCID: PMC8374969.
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Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement.

Cerebellum & ataxias

Klein JL, Lemmon ME, Northington FJ, Boltshauser E, Huisman TA, Poretti A.
PMID: 26770813
Cerebellum Ataxias. 2016 Jan 13;3:1. doi: 10.1186/s40673-016-0039-1. eCollection 2016.

Cerebellar abnormalities are encountered in a high number of neurological diseases that present in the neonatal period. These disorders can be categorized broadly as inherited (e.g. malformations, inborn errors of metabolism) or acquired (e.g. hemorrhages, infections, stroke). In some...

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Klein JL, Lemmon ME, Northington FJ, et al. Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement. Cerebellum Ataxias. 2016;3:1doi: 10.1186/s40673-016-0039-1.
Klein, J. L., Lemmon, M. E., Northington, F. J., Boltshauser, E., Huisman, T. A., & Poretti, A. (2016). Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement. Cerebellum & ataxias, 31. https://doi.org/10.1186/s40673-016-0039-1
Klein, Jessica L, et al. "Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement." Cerebellum & ataxias vol. 3 (2016): 1. doi: https://doi.org/10.1186/s40673-016-0039-1
Klein JL, Lemmon ME, Northington FJ, Boltshauser E, Huisman TA, Poretti A. Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement. Cerebellum Ataxias. 2016 Jan 13;3:1. doi: 10.1186/s40673-016-0039-1. eCollection 2016. PMID: 26770813; PMCID: PMC4712469.
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Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome.

Neuropediatrics

Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM.
PMID: 34674207
Neuropediatrics. 2021 Oct 21; doi: 10.1055/s-0041-1732310. Epub 2021 Oct 21.

We report on the conventional and diffusion tensor imaging (DTI) findings of a 2-year-old child with clinical presentation of Joubert's Syndrome (JS) and brainstem structural abnormalities as depicted by neuroimaging.Conventional magnetic resonance imaging (MRI) showed a "molar tooth" configuration...

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Meoded A, Kukreja M, Orman G, et al. Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome. Neuropediatrics. 2021;doi: 10.1055/s-0041-1732310.
Meoded, A., Kukreja, M., Orman, G., Boltshauser, E., & Huisman, T. A. G. M. (2021). Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome. Neuropediatrics, . https://doi.org/10.1055/s-0041-1732310
Meoded, Avner, et al. "Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome." Neuropediatrics vol. (2021). doi: https://doi.org/10.1055/s-0041-1732310
Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM. Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome. Neuropediatrics. 2021 Oct 21; doi: 10.1055/s-0041-1732310. Epub 2021 Oct 21. PMID: 34674207.
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Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla.

Cerebellum & ataxias

Kau T, Birnbacher R, Schwärzler P, Habernig S, Deutschmann H, Boltshauser E.
PMID: 30873288
Cerebellum Ataxias. 2019 Mar 05;6:4. doi: 10.1186/s40673-019-0098-1. eCollection 2019.

BACKGROUND: Fetal magnetic resonance imaging (MRI), mainly performed at standard field strength, plays a role in the classification of posterior fossa malformations. In the context of early second-trimester screening, upward rotation of the cerebellar vermis per se is usually...

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Kau T, Birnbacher R, Schwärzler P, et al. Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla. Cerebellum Ataxias. 2019;6:4doi: 10.1186/s40673-019-0098-1.
Kau, T., Birnbacher, R., Schwärzler, P., Habernig, S., Deutschmann, H., & Boltshauser, E. (2019). Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla. Cerebellum & ataxias, 64. https://doi.org/10.1186/s40673-019-0098-1
Kau, Thomas, et al. "Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla." Cerebellum & ataxias vol. 6 (2019): 4. doi: https://doi.org/10.1186/s40673-019-0098-1
Kau T, Birnbacher R, Schwärzler P, Habernig S, Deutschmann H, Boltshauser E. Delayed fenestration of Blake's pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla. Cerebellum Ataxias. 2019 Mar 05;6:4. doi: 10.1186/s40673-019-0098-1. eCollection 2019. PMID: 30873288; PMCID: PMC6402120.
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Rhoton's Atlas of Head, Neck, and Brain.

Neuropediatrics

Boltshauser E.
PMID: 29852511
Neuropediatrics. 2018 Aug;49(4):298. doi: 10.1055/s-0038-1657758. Epub 2018 May 31.

No abstract available.

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Boltshauser E. Rhoton's Atlas of Head, Neck, and Brain. Neuropediatrics. 2018;49(4):298doi: 10.1055/s-0038-1657758.
Boltshauser, E. (2018). Rhoton's Atlas of Head, Neck, and Brain. Neuropediatrics, 49(4), 298. https://doi.org/10.1055/s-0038-1657758
Boltshauser, Eugen. "Rhoton's Atlas of Head, Neck, and Brain." Neuropediatrics vol. 49,4 (2018): 298. doi: https://doi.org/10.1055/s-0038-1657758
Boltshauser E. Rhoton's Atlas of Head, Neck, and Brain. Neuropediatrics. 2018 Aug;49(4):298. doi: 10.1055/s-0038-1657758. Epub 2018 May 31. PMID: 29852511.
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[No title available]

Journal of medical genetics

Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM.
PMID: 34675124
J Med Genet. 2021 Oct 21; doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21.

BACKGROUND: Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a...

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Serpieri V, D'Abrusco F, Dempsey JC, et al. . J Med Genet. 2021;doi: 10.1136/jmedgenet-2021-108114.
Serpieri, V., D'Abrusco, F., Dempsey, J. C., Cheng, Y. H., Arrigoni, F., Baker, J., Battini, R., Bertini, E. S., Borgatti, R., Christman, A. K., Curry, C., D'Arrigo, S., Fluss, J., Freilinger, M., Gana, S., Ishak, G. E., Leuzzi, V., Loucks, H., Manti, F., Mendelsohn, N., Merlini, L., Miller, C. V., Muhammad, A., Nuovo, S., Romaniello, R., Schmidt, W., Signorini, S., Siliquini, S., Szczałuba, K., Vasco, G., Wilson, M., Zanni, G., Boltshauser, E., Doherty, D., Valente, E. M. (2021). . Journal of medical genetics, . https://doi.org/10.1136/jmedgenet-2021-108114
Serpieri, Valentina, et al. "." Journal of medical genetics vol. (2021). doi: https://doi.org/10.1136/jmedgenet-2021-108114
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM. . J Med Genet. 2021 Oct 21; doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. PMID: 34675124.
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Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Molecular syndromology

Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A.
PMID: 21031079
Mol Syndromol. 2010 Sep;1(3):99-112. doi: 10.1159/000319859. Epub 2010 Sep 14.

The etiology of non-syndromic hydrocephalus is poorly understood. Via positional cloning in a consanguineous family with autosomal recessive hydrocephalus we have now identified a homozygous splice site mutation in the CCDC88C gene as a novel cause of a complex...

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Ekici AB, Hilfinger D, Jatzwauk M, et al. Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Mol Syndromol. 2010;1(3):99-112doi: 10.1159/000319859.
Ekici, A. B., Hilfinger, D., Jatzwauk, M., Thiel, C. T., Wenzel, D., Lorenz, I., Boltshauser, E., Goecke, T. W., Staatz, G., Morris-Rosendahl, D. J., Sticht, H., Hehr, U., Reis, A., & Rauch, A. (2010). Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Molecular syndromology, 1(3), 99-112. https://doi.org/10.1159/000319859
Ekici, A B, et al. "Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum." Molecular syndromology vol. 1,3 (2010): 99-112. doi: https://doi.org/10.1159/000319859
Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A. Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. Mol Syndromol. 2010 Sep;1(3):99-112. doi: 10.1159/000319859. Epub 2010 Sep 14. PMID: 21031079; PMCID: PMC2957845.
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The Placenta and Neurodisability.

Neuropediatrics

Boltshauser E.
PMID: 27299366
Neuropediatrics. 2016 Aug;47(4):280. doi: 10.1055/s-0036-1584565. Epub 2016 Jun 14.

No abstract available.

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Boltshauser E. The Placenta and Neurodisability. Neuropediatrics. 2016;47(4):280doi: 10.1055/s-0036-1584565.
Boltshauser, E. (2016). The Placenta and Neurodisability. Neuropediatrics, 47(4), 280. https://doi.org/10.1055/s-0036-1584565
Boltshauser, Eugen. "The Placenta and Neurodisability." Neuropediatrics vol. 47,4 (2016): 280. doi: https://doi.org/10.1055/s-0036-1584565
Boltshauser E. The Placenta and Neurodisability. Neuropediatrics. 2016 Aug;47(4):280. doi: 10.1055/s-0036-1584565. Epub 2016 Jun 14. PMID: 27299366.
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Pediatric Spinal Deformities.

Neuropediatrics

Boltshauser E.
PMID: 29186744
Neuropediatrics. 2018 Apr;49(2):160. doi: 10.1055/s-0037-1608924. Epub 2017 Nov 29.

No abstract available.

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Boltshauser E. Pediatric Spinal Deformities. Neuropediatrics. 2017;49(2):160doi: 10.1055/s-0037-1608924.
Boltshauser, E. (2018). Pediatric Spinal Deformities. Neuropediatrics, 49(2), 160. https://doi.org/10.1055/s-0037-1608924
Boltshauser, Eugen. "Pediatric Spinal Deformities." Neuropediatrics vol. 49,2 (2018): 160. doi: https://doi.org/10.1055/s-0037-1608924
Boltshauser E. Pediatric Spinal Deformities. Neuropediatrics. 2018 Apr;49(2):160. doi: 10.1055/s-0037-1608924. Epub 2017 Nov 29. PMID: 29186744.
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Clinical Pathways in Neuro-Ophthalmology.

Neuropediatrics

Boltshauser E.
PMID: 30913568
Neuropediatrics. 2019 Jun;50(3):208. doi: 10.1055/s-0039-1684005. Epub 2019 Mar 26.

No abstract available.

Cite
Boltshauser E. Clinical Pathways in Neuro-Ophthalmology. Neuropediatrics. 2019;50(3):208doi: 10.1055/s-0039-1684005.
Boltshauser, E. (2019). Clinical Pathways in Neuro-Ophthalmology. Neuropediatrics, 50(3), 208. https://doi.org/10.1055/s-0039-1684005
Boltshauser, Eugen. "Clinical Pathways in Neuro-Ophthalmology." Neuropediatrics vol. 50,3 (2019): 208. doi: https://doi.org/10.1055/s-0039-1684005
Boltshauser E. Clinical Pathways in Neuro-Ophthalmology. Neuropediatrics. 2019 Jun;50(3):208. doi: 10.1055/s-0039-1684005. Epub 2019 Mar 26. PMID: 30913568.
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Showing 1 to 12 of 24 entries