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Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.

ERJ open research

Fraser KL, Wong S, Foley AR, Chhibber S, Bönnemann CG, Lesser DJ, Grosmann C, Rutkowski A.
PMID: 28660205
ERJ Open Res. 2017 Jun 23;3(2). doi: 10.1183/23120541.00049-2017. eCollection 2017 Apr.

Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the

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Fraser KL, Wong S, Foley AR, et al. Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. ERJ Open Res. 2017;3(2)doi: 10.1183/23120541.00049-2017.
Fraser, K. L., Wong, S., Foley, A. R., Chhibber, S., Bönnemann, C. G., Lesser, D. J., Grosmann, C., & Rutkowski, A. (2017). Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. ERJ open research, 3(2), . https://doi.org/10.1183/23120541.00049-2017
Fraser, Kristin L, et al. "Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management." ERJ open research vol. 3,2 (2017). doi: https://doi.org/10.1183/23120541.00049-2017
Fraser KL, Wong S, Foley AR, Chhibber S, Bönnemann CG, Lesser DJ, Grosmann C, Rutkowski A. Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. ERJ Open Res. 2017 Jun 23;3(2). doi: 10.1183/23120541.00049-2017. eCollection 2017 Apr. PMID: 28660205; PMCID: PMC5482316.
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169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.

Neuromuscular disorders : NMD

Goebel HH, Bönnemann CG.
PMID: 21414784
Neuromuscul Disord. 2011 May;21(5):363-74. doi: 10.1016/j.nmd.2011.02.009. Epub 2011 Mar 29.

No abstract available.

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Goebel HH, Bönnemann CG. 169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands. Neuromuscul Disord. 2011;21(5):363-74doi: 10.1016/j.nmd.2011.02.009.
Goebel, H. H., Bönnemann, C. G. (2011). 169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands. Neuromuscular disorders : NMD, 21(5), 363-74. https://doi.org/10.1016/j.nmd.2011.02.009
Goebel, Hans H, et al. "169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands." Neuromuscular disorders : NMD vol. 21,5 (2011): 363-74. doi: https://doi.org/10.1016/j.nmd.2011.02.009
Goebel HH, Bönnemann CG. 169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands. Neuromuscul Disord. 2011 May;21(5):363-74. doi: 10.1016/j.nmd.2011.02.009. Epub 2011 Mar 29. PMID: 21414784; PMCID: PMC5210189.
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siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.

Molecular therapy. Nucleic acids

Bolduc V, Zou Y, Ko D, Bönnemann CG.
PMID: 24518369
Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74.

Congenital muscular dystrophy type Ullrich (UCMD) is a severe disorder of early childhood onset for which currently there is no effective treatment. UCMD commonly is caused by dominant-negative mutations in the genes coding for collagen type VI, a major...

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Bolduc V, Zou Y, Ko D, et al. siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. Mol Ther Nucleic Acids. 2014;3:e147doi: 10.1038/mtna.2013.74.
Bolduc, V., Zou, Y., Ko, D., & Bönnemann, C. G. (2014). siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. Molecular therapy. Nucleic acids, 3e147. https://doi.org/10.1038/mtna.2013.74
Bolduc, Véronique, et al. "siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy." Molecular therapy. Nucleic acids vol. 3 (2014): e147. doi: https://doi.org/10.1038/mtna.2013.74
Bolduc V, Zou Y, Ko D, Bönnemann CG. siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74. PMID: 24518369; PMCID: PMC3950771.
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214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.

Neuromuscular disorders : NMD

Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG.
PMID: 31400830
Neuromuscul Disord. 2019 Aug;29(8):644-650. doi: 10.1016/j.nmd.2019.07.002. Epub 2019 Jul 13.

No abstract available.

Cite
Donkervoort S, Dowling JJ, Laporte J, et al. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscul Disord. 2019;29(8):644-650doi: 10.1016/j.nmd.2019.07.002.
Donkervoort, S., Dowling, J. J., Laporte, J., MacArthur, D., Bönnemann, C. G. (2019). 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscular disorders : NMD, 29(8), 644-650. https://doi.org/10.1016/j.nmd.2019.07.002
Donkervoort, Sandra, et al. "214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015." Neuromuscular disorders : NMD vol. 29,8 (2019): 644-650. doi: https://doi.org/10.1016/j.nmd.2019.07.002
Donkervoort S, Dowling JJ, Laporte J, MacArthur D, Bönnemann CG. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscul Disord. 2019 Aug;29(8):644-650. doi: 10.1016/j.nmd.2019.07.002. Epub 2019 Jul 13. PMID: 31400830.
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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Genetics in medicine : official journal of the American College of Medical Genetics

Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K.
PMID: 33686260
Genet Med. 2021 Apr;23(4):796. doi: 10.1038/s41436-020-01090-w.

No abstract available.

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Klöckner C, Sticht H, Zacher P, et al. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021;23(4):796doi: 10.1038/s41436-020-01090-w.
Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., Chung, W. K., Clarke, A. J., Devine, P., Donkervoort, S., Fraser, J. L., Friedman, J., Gates, A., Ghoumid, J., Hobson, E., Horvath, G., Keller-Ramey, J., Keren, B., Kurian, M. A., Lee, V., Leppig, K. A., Lundgren, J., McDonald, M. T., McLaughlin, H. M., McTague, A., Mefford, H. C., Mignot, C., Mikati, M. A., Nava, C., Raymond, F. L., Sampson, J. R., Sanchis-Juan, A., Shashi, V., Shieh, J. T. C., Shinawi, M., Slavotinek, A., Stödberg, T., Stong, N., Sullivan, J. A., Taylor, A. C., Toler, T. L., van den Boogaard, M. J., van der Crabben, S. N., van Gassen, K. L. I., van Jaarsveld, R. H., Van Ziffle, J., Wadley, A. F., Wagner, M., Wigby, K., Wortmann, S. B., Zarate, Y. A., Møller, R. S., Lemke, J. R., & Platzer, K. (2021). Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in medicine : official journal of the American College of Medical Genetics, 23(4), 796. https://doi.org/10.1038/s41436-020-01090-w
Klöckner, Chiara, et al. "Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy." Genetics in medicine : official journal of the American College of Medical Genetics vol. 23,4 (2021): 796. doi: https://doi.org/10.1038/s41436-020-01090-w
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr;23(4):796. doi: 10.1038/s41436-020-01090-w. PMID: 33686260.
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

EMBO molecular medicine

Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M.
PMID: 34779586
EMBO Mol Med. 2021 Dec 07;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15.

BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin-5 for fusion of endoplasmic reticulum-derived vesicles with the ER-Golgi intermediate compartment (ERGIC) and the cis-Golgi. Here, we report three individuals, from two families, with severe congenital...

Cite
Donkervoort S, Krause N, Dergai M, et al. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021;13(12):e13787doi: 10.15252/emmm.202013787.
Donkervoort, S., Krause, N., Dergai, M., Yun, P., Koliwer, J., Gorokhova, S., Geist Hauserman, J., Cummings, B. B., Hu, Y., Smith, R., Uapinyoying, P., Ganesh, V. S., Ghosh, P. S., Monaghan, K. G., Edassery, S. L., Ferle, P. E., Silverstein, S., Chao, K. R., Snyder, M., Ellingwood, S., Bharucha-Goebel, D., Iannaccone, S. T., Dal Peraro, M., Foley, A. R., Savas, J. N., Bolduc, V., Fasshauer, D., Bönnemann, C. G., & Schwake, M. (2021). BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO molecular medicine, 13(12), e13787. https://doi.org/10.15252/emmm.202013787
Donkervoort, Sandra, et al. "BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy." EMBO molecular medicine vol. 13,12 (2021): e13787. doi: https://doi.org/10.15252/emmm.202013787
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021 Dec 07;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. PMID: 34779586.
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Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.

Annals of clinical and translational neurology

Guadagnin E, Mohassel P, Johnson KR, Yang L, Santi M, Uapinyoying P, Dastgir J, Hu Y, Dillmann A, Cookson MR, Foley AR, Bönnemann CG.
PMID: 34729958
Ann Clin Transl Neurol. 2021 Nov;8(11):2184-2198. doi: 10.1002/acn3.51450. Epub 2021 Nov 02.

OBJECTIVE: To define the transcriptomic changes responsible for the histologic alterations in skeletal muscle and their progression in collagen VI-related muscular dystrophy (COL6-RD).METHODS: COL6-RD patient muscle biopsies were stratified into three groups based on the overall level of pathologic...

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Guadagnin E, Mohassel P, Johnson KR, et al. Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies. Ann Clin Transl Neurol. 2021;8(11):2184-2198doi: 10.1002/acn3.51450.
Guadagnin, E., Mohassel, P., Johnson, K. R., Yang, L., Santi, M., Uapinyoying, P., Dastgir, J., Hu, Y., Dillmann, A., Cookson, M. R., Foley, A. R., & Bönnemann, C. G. (2021). Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies. Annals of clinical and translational neurology, 8(11), 2184-2198. https://doi.org/10.1002/acn3.51450
Guadagnin, Eleonora, et al. "Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies." Annals of clinical and translational neurology vol. 8,11 (2021): 2184-2198. doi: https://doi.org/10.1002/acn3.51450
Guadagnin E, Mohassel P, Johnson KR, Yang L, Santi M, Uapinyoying P, Dastgir J, Hu Y, Dillmann A, Cookson MR, Foley AR, Bönnemann CG. Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies. Ann Clin Transl Neurol. 2021 Nov;8(11):2184-2198. doi: 10.1002/acn3.51450. Epub 2021 Nov 02. PMID: 34729958; PMCID: PMC8607456.
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

EMBO molecular medicine

Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M.
PMID: 34779586
EMBO Mol Med. 2021 Dec 07;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15.

BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin-5 for fusion of endoplasmic reticulum-derived vesicles with the ER-Golgi intermediate compartment (ERGIC) and the cis-Golgi. Here, we report three individuals, from two families, with severe congenital...

Cite
Donkervoort S, Krause N, Dergai M, et al. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021;13(12):e13787doi: 10.15252/emmm.202013787.
Donkervoort, S., Krause, N., Dergai, M., Yun, P., Koliwer, J., Gorokhova, S., Geist Hauserman, J., Cummings, B. B., Hu, Y., Smith, R., Uapinyoying, P., Ganesh, V. S., Ghosh, P. S., Monaghan, K. G., Edassery, S. L., Ferle, P. E., Silverstein, S., Chao, K. R., Snyder, M., Ellingwood, S., Bharucha-Goebel, D., Iannaccone, S. T., Dal Peraro, M., Foley, A. R., Savas, J. N., Bolduc, V., Fasshauer, D., Bönnemann, C. G., & Schwake, M. (2021). BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO molecular medicine, 13(12), e13787. https://doi.org/10.15252/emmm.202013787
Donkervoort, Sandra, et al. "BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy." EMBO molecular medicine vol. 13,12 (2021): e13787. doi: https://doi.org/10.15252/emmm.202013787
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021 Dec 07;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. PMID: 34779586; PMCID: PMC8649873.
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Clinical spectrum and genetic variations of .

Journal of medical genetics

Fan Y, Tan D, Song D, Zhang X, Chang X, Wang Z, Zhang C, Chan SH, Wu Q, Wu L, Wang S, Yan H, Ge L, Yang H, Mao B, Bönnemann C, Liu J, Wang S, Yuan Y, Wu X, Zhang H, Xiong H.
PMID: 32571898
J Med Genet. 2021 May;58(5):326-333. doi: 10.1136/jmedgenet-2019-106671. Epub 2020 Jun 22.

METHODS: The clinical presentations of patients with RESULTS: Eighty-four patients were identified to harbour CONCLUSIONS: Our detailed clinical and genetic analysis of 84 patients with

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Fan Y, Tan D, Song D, et al. Clinical spectrum and genetic variations of . J Med Genet. 2020;58(5):326-333doi: 10.1136/jmedgenet-2019-106671.
Fan, Y., Tan, D., Song, D., Zhang, X., Chang, X., Wang, Z., Zhang, C., Chan, S. H., Wu, Q., Wu, L., Wang, S., Yan, H., Ge, L., Yang, H., Mao, B., Bönnemann, C., Liu, J., Wang, S., Yuan, Y., Wu, X., Zhang, H., & Xiong, H. (2021). Clinical spectrum and genetic variations of . Journal of medical genetics, 58(5), 326-333. https://doi.org/10.1136/jmedgenet-2019-106671
Fan, Yanbin, et al. "Clinical spectrum and genetic variations of ." Journal of medical genetics vol. 58,5 (2021): 326-333. doi: https://doi.org/10.1136/jmedgenet-2019-106671
Fan Y, Tan D, Song D, Zhang X, Chang X, Wang Z, Zhang C, Chan SH, Wu Q, Wu L, Wang S, Yan H, Ge L, Yang H, Mao B, Bönnemann C, Liu J, Wang S, Yuan Y, Wu X, Zhang H, Xiong H. Clinical spectrum and genetic variations of . J Med Genet. 2021 May;58(5):326-333. doi: 10.1136/jmedgenet-2019-106671. Epub 2020 Jun 22. PMID: 32571898; PMCID: PMC8086255.
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

EMBO molecular medicine

Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M.
PMID: 34779586
EMBO Mol Med. 2021 Dec 07;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15.

BET1 is required, together with its SNARE complex partners GOSR2, SEC22b, and Syntaxin-5 for fusion of endoplasmic reticulum-derived vesicles with the ER-Golgi intermediate compartment (ERGIC) and the cis-Golgi. Here, we report three individuals, from two families, with severe congenital...

Cite
Donkervoort S, Krause N, Dergai M, et al. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021;13(12):e13787doi: 10.15252/emmm.202013787.
Donkervoort, S., Krause, N., Dergai, M., Yun, P., Koliwer, J., Gorokhova, S., Geist Hauserman, J., Cummings, B. B., Hu, Y., Smith, R., Uapinyoying, P., Ganesh, V. S., Ghosh, P. S., Monaghan, K. G., Edassery, S. L., Ferle, P. E., Silverstein, S., Chao, K. R., Snyder, M., Ellingwood, S., Bharucha-Goebel, D., Iannaccone, S. T., Dal Peraro, M., Foley, A. R., Savas, J. N., Bolduc, V., Fasshauer, D., Bönnemann, C. G., & Schwake, M. (2021). BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO molecular medicine, 13(12), e13787. https://doi.org/10.15252/emmm.202013787
Donkervoort, Sandra, et al. "BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy." EMBO molecular medicine vol. 13,12 (2021): e13787. doi: https://doi.org/10.15252/emmm.202013787
Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021 Dec 07;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. PMID: 34779586; PMCID: PMC8649873.
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Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.

Brain : a journal of neurology

Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG.
PMID: 34114613
Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179.

Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the PNS and CNS. The disease is caused by biallelic...

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Bharucha-Goebel DX, Norato G, Saade D, et al. Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort. Brain. 2021;144(10):3239-3250doi: 10.1093/brain/awab179.
Bharucha-Goebel, D. X., Norato, G., Saade, D., Paredes, E., Biancavilla, V., Donkervoort, S., Kaur, R., Lehky, T., Fink, M., Armao, D., Gray, S. J., Waite, M., Debs, S., Averion, G., Hu, Y., Zein, W. M., Foley, A. R., Jain, M., & Bönnemann, C. G. (2021). Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort. Brain : a journal of neurology, 144(10), 3239-3250. https://doi.org/10.1093/brain/awab179
Bharucha-Goebel, Diana X, et al. "Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort." Brain : a journal of neurology vol. 144,10 (2021): 3239-3250. doi: https://doi.org/10.1093/brain/awab179
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG. Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort. Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. PMID: 34114613; PMCID: PMC8634068.
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Editorial.

Journal of neuromuscular diseases

Bönnemann CG, Lochmüller H.
PMID: 27858669
J Neuromuscul Dis. 2014;1(1):1.

No abstract available.

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Bönnemann CG, Lochmüller H. Editorial. J Neuromuscul Dis. 2014;1(1):1
Bönnemann, C. G., & Lochmüller, H. (2014). Editorial. Journal of neuromuscular diseases, 1(1), 1.
Bönnemann, Carsten G, and Lochmüller, Hanns. "Editorial." Journal of neuromuscular diseases vol. 1,1 (2014): 1.
Bönnemann CG, Lochmüller H. Editorial. J Neuromuscul Dis. 2014;1(1):1. PMID: 27858669.
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