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874 results on '"Brandner, S."'

102. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Author

Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, I, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F, Houlden, H, Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, I, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F, and Houlden, H

Abstract

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure and usually death during childhood. We recently reported the identification of SLC52A2, encoding riboflavin transporter RFVT2, as a new causative gene for Brown-Vialetto-Van Laere syndrome. We used both exome and Sanger sequencing to identify SLC52A2 mutations in patients presenting with cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency. We undertook clinical, neurophysiological and biochemical characterization of patients with mutations in SLC52A2, functionally analysed the most prevalent mutations and initiated a regimen of high-dose oral riboflavin. We identified 18 patients from 13 families with compound heterozygous or homozygous mutations in SLC52A2. Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency. We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression, and we report the response to high-dose oral riboflavin therapy in patients with SLC52A2 mutations, including significant and sustained clinical and biochemical improvements in two patients and preliminary clinical response data in 13 patients with associated biochemical improvements in 10 patients. The clinical and biochemical responses of this SLC52A2-specific cohort suggest that riboflavin supplementation can ameliorate

Published
2014

109. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Author

Liu, Y.-T., primary, Laura, M., additional, Hersheson, J., additional, Horga, A., additional, Jaunmuktane, Z., additional, Brandner, S., additional, Pittman, A., additional, Hughes, D., additional, Polke, J. M., additional, Sweeney, M. G., additional, Proukakis, C., additional, Janssen, J. C., additional, Auer-Grumbach, M., additional, Zuchner, S., additional, Shields, K. G., additional, Reilly, M. M., additional, and Houlden, H., additional

Published
2014
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111. Prions--role of the peripheral nervous system

Author

Glatzel, M, Brandner, S, Klein, M A, Horstmann, S, Aguzzi, A, University of Zurich, and Glatzel, M

Subjects
10208 Institute of Neuropathology, 2406 Virology, 570 Life sciences, biology, 610 Medicine & health, 1306 Cancer Research, 2725 Infectious Diseases
Published
2002
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115. Processing of nerve biopsies: a practical guide for neuropathologists.

Author

Weis, J., Brandner, S., Lammens, M.M.Y., Sommer, C., Vallat, J.M., Weis, J., Brandner, S., Lammens, M.M.Y., Sommer, C., and Vallat, J.M.

Abstract

Item does not contain fulltext, Nerve biopsy is a valuable tool in the diagnostic work-up of peripheral neuropathies. Currently, major indications include interstitial pathologies such as suspected vasculitis and amyloidosis, atypical cases of inflammatory neuropathy and the differential diagnosis of hereditary neuropathies that cannot be specified otherwise. However, surgical removal of a piece of nerve causes a sensory deficit and - in some cases - chronic pain. Therefore, a nerve biopsy is usually performed only when other clinical, laboratory and electrophysiological methods have failed to clarify the cause of disease. The neuropathological work-up should include at least paraffin and resin semithin histology using a panel of conventional and immunohistochemical stains. Cryostat section staining, teased fiber preparations, electron microscopy and molecular genetic analyses are potentially useful additional methods in a subset of cases. Being performed, processed and read by experienced physicians and technicians nerve biopsies can provide important information relevant for clinical management.

Published
2012

116. Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies.

Author

Sommer, C.L., Brandner, S., Dyck, P.J., Harati, Y., LaCroix, C., Lammens, M.M.Y., Magy, L., Mellgren, S.I., Morbin, M., Navarro, C, Powell, H.C., Schenone, A.E., Tan, E., Urtizberea, A., Weis, J., Sommer, C.L., Brandner, S., Dyck, P.J., Harati, Y., LaCroix, C., Lammens, M.M.Y., Magy, L., Mellgren, S.I., Morbin, M., Navarro, C, Powell, H.C., Schenone, A.E., Tan, E., Urtizberea, A., and Weis, J.

Abstract

1 september 2010, Item does not contain fulltext, Nerve biopsy is often the final step in the diagnostic work-up of neuropathies of unknown origin. The aim of this guideline was to prepare an evidence-based guideline on the methods for performing and evaluating nerve biopsy. The panel performed a search of MEDLINE, hand search of bibliographies of the references retrieved, review of the evidence, and reached agreement by consensus. There were not enough formal studies of diagnostic test accuracy to allow evidence-based recommendations of levels A-C for most questions. The panel summarized the class IV evidence and reached agreement by consensus on the following recommendations: (1) Nerve biopsy should not be performed before adequate clinical, electrophysiological, and laboratory investigation and only be performed with appropriate informed consent. (2) An interactive working relationship with the relevant disciplines involved and the provision of sufficient clinical information is encouraged. (3) Biopsies should be processed and read by professionals with adequate training and experience. (4) Optimal analysis of nerve biopsy is best performed by laboratories that have the facilities and expertise to prepare and evaluate frozen and fixed sections (cryostat, paraffin, and epoxy sections). (5) Immunohistochemistry, teased fiber analysis, electron microscopy, and morphometry may help clarify the diagnosis in some conditions and should be considered as additional studies.

Published
2010

118. A clinical study of kuru patients with long incubation periods at the end of the epidemic in Papua New Guinea

Author

Collinge, J, Whitfield, J, McKintosh, E, Frosh, A, Mead, S, Hill, AF, Brandner, S, Thomas, D, Alpers, MP, Collinge, J, Whitfield, J, McKintosh, E, Frosh, A, Mead, S, Hill, AF, Brandner, S, Thomas, D, and Alpers, MP

Abstract

Kuru is so far the principal human epidemic prion disease. While its incidence has steadily declined since the cessation of its route of transmission, endocannibalism, in Papua New Guinea in the 1950s, the arrival of variant Creutzfeldt-Jakob disease (vCJD), also thought to be transmitted by dietary prion exposure, has given kuru a new global relevance. We investigated all suspected cases of kuru from July 1996 to June 2004 and identified 11 kuru patients. There were four females and seven males, with an age range of 46-63 years at the onset of disease, in marked contrast to the age and sex distribution when kuru was first investigated 50 years ago. We obtained detailed histories of residence and exposure to mortuary feasts and performed serial neurological examination and genetic studies where possible. All patients were born a significant period before the mortuary practice of transumption ceased and their estimated incubation periods in some cases exceeded 50 years. The principal clinical features of kuru in the studied patients showed the same progressive cerebellar syndrome that had been previously described. Two patients showed marked cognitive impairment well before preterminal stages, in contrast to earlier clinical descriptions. In these patients, the mean clinical duration of 17 months was longer than the overall average in kuru but similar to that previously reported for the same age group, and this may relate to the effects of both patient age and PRNP codon 129 genotype. Importantly, no evidence for lymphoreticular colonization with prions, seen uniformly in vCJD, was observed in a patient with kuru at tonsil biopsy.

Published
2008

119. Central and peripheral pathology of kuru: pathological analysis of a recent case and comparison with other forms of human prion disease

Author

Brandner, S., Whitfield, Jerome, Boone, K., Puwa, A., O'Malley, C., Linehan, J., Joiner, S., Scaravilli, F., Calder, I., Alpers, Michael Philip, Wadsworth, J., Collinge, J., Brandner, S., Whitfield, Jerome, Boone, K., Puwa, A., O'Malley, C., Linehan, J., Joiner, S., Scaravilli, F., Calder, I., Alpers, Michael Philip, Wadsworth, J., and Collinge, J.

Published
2008

121. [The new research frontier on prion disease]

Author

Aguzzi, A, D'Angelo, M G, Klein, M A, Frigg, R, Fischer, M B, Raeber, A J, Röckl, C, Musahl, C, Hegyi, I, Brandner, S, University of Zurich, and Aguzzi, A

Subjects
2734 Pathology and Forensic Medicine, 10208 Institute of Neuropathology, 570 Life sciences, biology, 610 Medicine & health
Published
1998

126. Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey

Author

Gill, O. N., primary, Spencer, Y., additional, Richard-Loendt, A., additional, Kelly, C., additional, Dabaghian, R., additional, Boyes, L., additional, Linehan, J., additional, Simmons, M., additional, Webb, P., additional, Bellerby, P., additional, Andrews, N., additional, Hilton, D. A., additional, Ironside, J. W., additional, Beck, J., additional, Poulter, M., additional, Mead, S., additional, and Brandner, S., additional

Published
2013
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127. Astrocyte-specific expression of hamster prion protein (PrP) renders PrP knockout mice susceptible to hamster scrapie

Author

Raeber, A J, Race, R E, Brandner, S, Priola, S A, Sailer, A, Bessen, R A, Mucke, L, Manson, J, Aguzzi, A, Oldstone, M B A, Weissmann, C, Chesebro, B, University of Zurich, and Weissmann, C

Subjects
General Immunology and Microbiology, 1300 General Biochemistry, Genetics and Molecular Biology, 2400 General Immunology and Microbiology, General Neuroscience, General Biochemistry, 10208 Institute of Neuropathology, 1312 Molecular Biology, 570 Life sciences, biology, 2800 General Neuroscience, 610 Medicine & health, Genetics and Molecular Biology, Molecular Biology
Published
1997

130. Mice homozygous for a modified beta-amyloid precursor protein (beta APP) gene show impaired behavior and high incidence of agenesis of the corpus callosum

Author

Müller, U, Cristina, N, Li, Z W, Wolfer, D P Y, Lipp, H P, Rülicke, T, Brandner, S, Aguzzi, A, Weissman, C, University of Zurich, and Weissman, C

Subjects
1207 History and Philosophy of Science, 1300 General Biochemistry, Genetics and Molecular Biology, 10208 Institute of Neuropathology, 570 Life sciences, biology, 2800 General Neuroscience, 610 Medicine & health
Published
1996

131. Neuroectodermal grafting: a new tool for the study of neurodegenerative diseases

Author

Isenmann, S, Brandner, S, Aguzzi, A, University of Zurich, and Aguzzi, A

Subjects
2734 Pathology and Forensic Medicine, Degeneration, 10208 Institute of Neuropathology, 570 Life sciences, biology, 610 Medicine & health, 6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología::616.8 - Neurología. Neuropatología. Sistema nervioso [CDU], 2722 Histology, Scrapie
Abstract

Transgenic and knockout mice have contributed much to our current understanding of the role played by single genes during development and in pathological processes of the CNS, such as neurodegeneration. However, embryonic lethality resulting from the disruption of important genes has often hindered the interpretation of such experiments. Grafting of immature cells from genetically modified organisms into healthy recipients promises to efficiently bypass this problem. We have used neural transplantation techniques which allow us to keep CNS tissue of knockout and transgenic mice viable for a prolonged period of time in the brain or in the kidney capsule of healthy recipients. We have characterized biological parameters such as growth, proliferation and differentiation and also the formation of an intact blood-brain barrier (BBB) after grafting of wild-type telencephalic anlage in this system. We have also employed this technique to study the longterm properties of neuroepithelial tissue derived from knockout mice. The results of our studies are discussed in the context of neurodegenerative diseases.

Published
1996
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135. F.3 Comprehensive multiplatform analysis of CDKN2A alterations in meningiomas

Author

Wang, JZ, Patil, V, Liu, J, Dogan, H, Tabatabai, G, Behling, F, Hoffman, E, Bunda, S, Yakubov, R, Kaloti, R, Brandner, S, Gao, A, Cohen-Gadol, A, Barnholtz-Sloan, J, Skardelly, M, Tatagiba, M, Raleigh, D, Sahm, F, Boutros, PC, Aldape, K, Nassiri, F, and Zadeh, G

Abstract

Background: In meningiomas, CDKN2A/B deletions are associated with poor outcomes but are rare in most cohorts (1-5%). Large molecular datasets are therefore required to explore these deletions and their relationship to other prognostic CDKN2A alterations. Methods: We utilized multidimensional molecular data of 560 meningiomas from 5 independent cohorts to comprehensively interrogate the spectrum of CDKN2A alterations through DNA methylation, copy number variation, transcriptomics, and proteomics using an integrated molecular approach. Results: Meningiomas with either CDKN2A/B deletions (partial or homozygous loss) or an intact CDKN2A gene locus but elevated mRNA expression (CDKN2Ahigh) both had poor clinical outcomes. Increased CDKN2A mRNA expression was a poor prognostic factor independent of CDKN2A deletion. CDKN2A expression and p16 protein increased with tumor grade and more aggressive molecular and methylation groups. CDKN2Ahighmeningiomas and meningiomas with CDKN2A deletions were enriched for similar cell cycling pathways dysregulated at different checkpoints. p16 immunohistochemistry was unreliable in differentiating between meningiomas with and without CDKN2A deletions, but increased positivity was associated with increased mRNA expression. CDKN2Ahighmeningiomas were associated with gene hypermethylation, Rb-deficiency, and lack of response to CDK inhibition. Conclusions: These findings support the role of CDKN2A mRNA expression as a biomarker of clinically aggressive meningiomas with potential therapeutic implications.

Published
2023
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136. Abstracts from the 2011 BNOS Conference, June 29 - July 1, 2011, Homerton College, Cambridge

Author

Ammoun, S., primary, Zhou, L., additional, Barczyk, M., additional, Hilton, D., additional, Hafizi, S., additional, Hanemann, C., additional, Lehnus, K. S., additional, Donovan, L. K., additional, Pilkington, G. J., additional, An, Q., additional, Anderson, I. A., additional, Thomson, S., additional, Bailey, M., additional, Lekka, E., additional, Law, J., additional, Davis, C., additional, Banfill, K., additional, Loughrey, C., additional, Hatfield, P., additional, Bax, D., additional, Elliott, R., additional, Bishop, R., additional, Taylor, K., additional, Marshall, L., additional, Gaspar, N., additional, Viana-Pereira, M., additional, Reis, R., additional, Renshaw, J., additional, Ashworth, A., additional, Lord, C., additional, Jones, C., additional, Bellamy, C., additional, Shaw, L., additional, Alder, J., additional, Shorrocks, A., additional, Lea, R., additional, Birks, S., additional, Burnet, M., additional, Pilkington, G., additional, Bruch, J. D., additional, Ho, J., additional, Watts, C., additional, Price, S. J., additional, Camp, S., additional, Apostolopoulos, V., additional, Mehta, A., additional, Roncaroli, F., additional, Nandi, D., additional, Clark, B., additional, Mackinnon, M., additional, MacLeod, N., additional, Stewart, W., additional, Chalmers, A., additional, Cole, A., additional, Hanna, G., additional, Bailie, K., additional, Conkey, D., additional, Harney, J., additional, Darlow, C., additional, Chapman, S., additional, Mohsen, L., additional, Price, S., additional, Donovan, L., additional, Dyer, H., additional, Lord, H., additional, Fletcher, K., additional, das Nair, R., additional, MacNiven, J., additional, Basu, S., additional, Byrne, P., additional, Glancz, L., additional, Critchley, G., additional, Grech-Sollars, M., additional, Saunders, D., additional, Phipps, K., additional, Clayden, J., additional, Clark, C., additional, Greco, A., additional, Acquati, S., additional, Marino, S., additional, Hammouche, S., additional, Wilkins, S. P., additional, Smith, T., additional, Brodbelt, A., additional, Clark, S., additional, Wong, A. H. L., additional, Eldridge, P., additional, Farah, J. O., additional, Bruch, J., additional, Lamb, G., additional, Smith, S., additional, James, A., additional, Glegg, M., additional, Jeffcote, T., additional, Boulos, S., additional, Robbins, P., additional, Knuckey, N., additional, Banigo, A., additional, Brodbelt, A. R., additional, Jenkinson, M. D., additional, Jeyapalan, J. N., additional, Mumin, M. A., additional, Forshew, T., additional, Lawson, A. R., additional, Tatevossian, R. G., additional, Jacques, T. S., additional, Sheer, D., additional, Kilday, J., additional, Wright, K., additional, Leavy, S., additional, Lowe, J., additional, Schwalbe, E., additional, Clifford, S., additional, Gilbertson, R., additional, Coyle, B., additional, Grundy, R., additional, Kinsella, P., additional, Clynes, M., additional, Amberger-Murphy, V., additional, Barron, N., additional, Lambert, S. R., additional, Jones, D., additional, Pearson, D., additional, Ichimura, I., additional, Collins, V., additional, Steele, L., additional, Sinha, P., additional, Chumas, P., additional, Tyler, J., additional, Ogawa, D., additional, Chiocca, E., additional, DeLay, M., additional, Bronisz, A., additional, Nowicki, M., additional, Godlewski, J., additional, Lawler, S., additional, Lee, M. K., additional, Javadpour, M., additional, Abel, P., additional, Dawson, T., additional, Lea, B., additional, Lim, C. S.-K., additional, Grundy, P. L., additional, Pendleton, M., additional, Williamson, A., additional, Merve, A., additional, Zhang, X., additional, Miller, S., additional, Rogers, H. A., additional, Lyon, P., additional, Rand, V., additional, Adamowicz-Brice, M., additional, Clifford, S. C., additional, Hayden, J. T., additional, Dyer, S., additional, Pfister, S., additional, Korshunov, A., additional, Brundler, M.-A., additional, Grundy, R. G., additional, Nankivell, M., additional, Mulvenna, P., additional, Barton, R., additional, Wilson, P., additional, Faivre-Finn, C., additional, Pugh, C., additional, Langley, R., additional, Ngoga, D., additional, Tennant, D., additional, Williams, A., additional, Moss, P., additional, Cruickshank, G., additional, Owusu-Agyemang, K., additional, Bell, S., additional, St.George, J., additional, Piccirillo, S. G., additional, Qadri, S., additional, Pirola, E., additional, Jenkinson, M., additional, Rahman, R., additional, Rahman, C., additional, MacArthur, D., additional, Rose, F., additional, Shakesheff, K., additional, Carroll, C., additional, Watson, P., additional, Hawkins, M., additional, Spoudeas, H., additional, Walker, D., additional, Holland, T., additional, Ring, H., additional, Rooney, A., additional, McNamara, S., additional, Fraser, M., additional, Rampling, R., additional, Carson, A., additional, Grant, R., additional, Royds, J., additional, Al Nadaf, S., additional, Ahn, A., additional, Chen, Y.-J., additional, Wiles, A., additional, Jellinek, D., additional, Braithwaite, A., additional, Baguley, B., additional, MacFarlane, M., additional, Hung, N., additional, Slatter, T., additional, Rusbridge, S., additional, Walmsley, N., additional, Griffiths, S., additional, Wilford, P., additional, Rees, J., additional, Ryan, D., additional, Liu, P., additional, Galavotti, S., additional, Shaked-Rabi, M., additional, Tulchinsky, E., additional, Brandner, S., additional, Salomoni, P., additional, Schulte, A., additional, Gunther, H. S., additional, Zapf, S., additional, Riethdorf, S., additional, Westphal, M., additional, Lamszus, K., additional, Selvanathan, S. K., additional, Salminen, H. J., additional, Setua, S., additional, Welland, M. E., additional, Shevtsov, M., additional, Khachatryan, W., additional, Kim, A., additional, Samochernych, K., additional, Pozdnyakov, A., additional, Guzhova, I. V., additional, Romanova, I. V., additional, Margulis, B., additional, Barrow, J., additional, Macarthur, D., additional, Long, A., additional, Maherally, Z., additional, Smith, J. R., additional, Dickson, L., additional, Prabhu, S., additional, Harris, F., additional, Snape, T. J., additional, Sussman, M., additional, Wilne, S., additional, Whitehouse, W., additional, Chow, G., additional, Liu, J.-F., additional, Snape, T., additional, Karakoula, A., additional, Rowther, F., additional, Warr, T., additional, Zisakis, A., additional, Varsos, V., additional, Panteli, A., additional, Karypidou, O., additional, Zampethanis, A., additional, Fotovati, A., additional, Abu-Ali, S., additional, Wang, P.-S., additional, Deleyrolle, L., additional, Lee, C., additional, Triscott, J., additional, Chen, J. Y., additional, Franciosi, S., additional, Nakamura, Y., additional, Sugita, Y., additional, Uchiumi, T., additional, Kuwano, M., additional, Leavitt, B. R., additional, Singh, S. K., additional, Jury, A., additional, Wakimoto, H., additional, Reynolds, B. A., additional, Pallen, C. J., additional, Dunn, S. E., additional, Shepherd, S., additional, Scott, S., additional, Bowyer, D., additional, Wallace, L., additional, Hacking, B., additional, Jena, R., additional, Gillard, J., additional, Verraeult, M., additional, Reynolds, B., additional, Dunham, C., additional, Bally, M., additional, Hukin, J., additional, Singhal, S., additional, Singh, S., additional, and Dunn, S., additional

Published
2011
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137. Behavioral and Other Phenotypes in a Cytoplasmic Dynein Light Intermediate Chain 1 Mutant Mouse

Author

Banks, G. T., primary, Haas, M. A., additional, Line, S., additional, Shepherd, H. L., additional, AlQatari, M., additional, Stewart, S., additional, Rishal, I., additional, Philpott, A., additional, Kalmar, B., additional, Kuta, A., additional, Groves, M., additional, Parkinson, N., additional, Acevedo-Arozena, A., additional, Brandner, S., additional, Bannerman, D., additional, Greensmith, L., additional, Hafezparast, M., additional, Koltzenburg, M., additional, Deacon, R., additional, Fainzilber, M., additional, and Fisher, E. M. C., additional

Published
2011
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