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Advanced 3D-Sonographic Imaging as a Precise Technique to Evaluate Tumor Volume.

Translational oncology

Pflanzer R, Hofmann M, Shelke A, Habib A, Derwich W, Schmitz-Rixen T, Bernd A, Kaufmann R, Bereiter-Hahn J.
PMID: 25500076
Transl Oncol. 2014 Dec;7(6):681-6. doi: 10.1016/j.tranon.2014.09.013.

Determination of tumor volume in subcutaneously inoculated xenograft models is a standard procedure for clinical and preclinical evaluation of tumor response to treatment. Practitioners frequently use a hands-on caliper method in conjunction with a simplified formula to assess tumor...

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Pflanzer R, Hofmann M, Shelke A, et al. Advanced 3D-Sonographic Imaging as a Precise Technique to Evaluate Tumor Volume. Transl Oncol. 2014;7(6):681-6doi: 10.1016/j.tranon.2014.09.013.
Pflanzer, R., Hofmann, M., Shelke, A., Habib, A., Derwich, W., Schmitz-Rixen, T., Bernd, A., Kaufmann, R., & Bereiter-Hahn, J. (2014). Advanced 3D-Sonographic Imaging as a Precise Technique to Evaluate Tumor Volume. Translational oncology, 7(6), 681-6. https://doi.org/10.1016/j.tranon.2014.09.013
Pflanzer, R, et al. "Advanced 3D-Sonographic Imaging as a Precise Technique to Evaluate Tumor Volume." Translational oncology vol. 7,6 (2014): 681-6. doi: https://doi.org/10.1016/j.tranon.2014.09.013
Pflanzer R, Hofmann M, Shelke A, Habib A, Derwich W, Schmitz-Rixen T, Bernd A, Kaufmann R, Bereiter-Hahn J. Advanced 3D-Sonographic Imaging as a Precise Technique to Evaluate Tumor Volume. Transl Oncol. 2014 Dec;7(6):681-6. doi: 10.1016/j.tranon.2014.09.013. PMID: 25500076; PMCID: PMC4311038.
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Large quantum superpositions and interference of massive nanometer-sized objects.

Physical review letters

Romero-Isart O, Pflanzer AC, Blaser F, Kaltenbaek R, Kiesel N, Aspelmeyer M, Cirac JI.
PMID: 21797585
Phys Rev Lett. 2011 Jul 08;107(2):020405. doi: 10.1103/PhysRevLett.107.020405. Epub 2011 Jul 07.

We propose a method to prepare and verify spatial quantum superpositions of a nanometer-sized object separated by distances of the order of its size. This method provides unprecedented bounds for objective collapse models of the wave function by merging...

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Romero-Isart O, Pflanzer AC, Blaser F, et al. Large quantum superpositions and interference of massive nanometer-sized objects. Phys Rev Lett. 2011;107(2):020405doi: 10.1103/PhysRevLett.107.020405.
Romero-Isart, O., Pflanzer, A. C., Blaser, F., Kaltenbaek, R., Kiesel, N., Aspelmeyer, M., & Cirac, J. I. (2011). Large quantum superpositions and interference of massive nanometer-sized objects. Physical review letters, 107(2), 020405. https://doi.org/10.1103/PhysRevLett.107.020405
Romero-Isart, O, et al. "Large quantum superpositions and interference of massive nanometer-sized objects." Physical review letters vol. 107,2 (2011): 020405. doi: https://doi.org/10.1103/PhysRevLett.107.020405
Romero-Isart O, Pflanzer AC, Blaser F, Kaltenbaek R, Kiesel N, Aspelmeyer M, Cirac JI. Large quantum superpositions and interference of massive nanometer-sized objects. Phys Rev Lett. 2011 Jul 08;107(2):020405. doi: 10.1103/PhysRevLett.107.020405. Epub 2011 Jul 07. PMID: 21797585.
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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

Clinical genetics

Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, Lacombe D, Michaud V, Alkuraya FS.
PMID: 34212383
Clin Genet. 2021 Oct;100(4):468-477. doi: 10.1111/cge.14022. Epub 2021 Jul 13.

We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the "HX motif" of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered as being...

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Palmer EE, Whitton C, Hashem MO, et al. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021;100(4):468-477doi: 10.1111/cge.14022.
Palmer, E. E., Whitton, C., Hashem, M. O., Clark, R. D., Ramanathan, S., Starr, L. J., Velasco, D., De Dios, J. K., Singh, E., Cormier-Daire, V., Chopra, M., Rodan, L. H., Nellaker, C., Lakhani, S., Mallack, E. J., Panzer, K., Sidhu, A., Wentzensen, I. M., Lacombe, D., Michaud, V., & Alkuraya, F. S. (2021). CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clinical genetics, 100(4), 468-477. https://doi.org/10.1111/cge.14022
Palmer, Elizabeth E, et al. "CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum." Clinical genetics vol. 100,4 (2021): 468-477. doi: https://doi.org/10.1111/cge.14022
Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, Lacombe D, Michaud V, Alkuraya FS. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 Oct;100(4):468-477. doi: 10.1111/cge.14022. Epub 2021 Jul 13. PMID: 34212383.
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Human mutation

Kumble S, Levy AM, Punetha J, Gao H, Mew NA, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Network UD, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z.
PMID: 34859529
Hum Mutat. 2021 Dec 02; doi: 10.1002/humu.24308. Epub 2021 Dec 02.

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of...

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Kumble S, Levy AM, Punetha J, et al. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2021;doi: 10.1002/humu.24308.
Kumble, S., Levy, A. M., Punetha, J., Gao, H., Mew, N. A., Anyane-Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos-Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denommé-Pichon, A. S., Emrick, L., Faivre, L., Fasano, M. B., Fiévet, A., Finkel, R. S., García-Miñaúr, S., Gerard, A., Gomez-Puertas, P., Guillen Sacoto, M. J., Hoffman, T. L., Howard, L., Iglesias, A. D., Izumi, K., Larson, A., Leiber, A., Lozano, R., Marcos-Alcalde, I., Mintz, C. S., Mullegama, S. V., Møller, R. S., Odent, S., Oppermann, H., Ostergaard, E., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Paulson, A. M., Platzer, K., Posey, J. E., Potocki, L., Revah-Politi, A., Rio, M., Ritter, A. L., Robinson, S., Rosenfeld, J. A., Santos-Simarro, F., Sousa, S. B., Network, U. D., Wéber, M., Xie, Y., Chung, W. K., Brown, N. J., & Tümer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human mutation, . https://doi.org/10.1002/humu.24308
Kumble, Smitha, et al. "The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder." Human mutation vol. (2021). doi: https://doi.org/10.1002/humu.24308
Kumble S, Levy AM, Punetha J, Gao H, Mew NA, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Network UD, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2021 Dec 02; doi: 10.1002/humu.24308. Epub 2021 Dec 02. PMID: 34859529.
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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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The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment.

American journal of ophthalmology

Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR.
PMID: 34197781
Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29.

PURPOSE: To assess the impact of the COVID-19 pandemic and associated mitigation measures on persons with sensory impairments (SI), including visual impairments (VI) and hearing impairments (HI).DESIGN: Cross-sectional survey.METHODS: Adults with VI (best-corrected visual acuity

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Bernard A, Weiss S, Rahman M, et al. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021;234:49-58doi: 10.1016/j.ajo.2021.06.019.
Bernard, A., Weiss, S., Rahman, M., Ulin, S. S., D'Souza, C., Salgat, A., Panzer, K., Stein, J. D., Meade, M. A., McKee, M. M., & Ehrlich, J. R. (2021). The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. American journal of ophthalmology, 23449-58. https://doi.org/10.1016/j.ajo.2021.06.019
Bernard, Alec, et al. "The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment." American journal of ophthalmology vol. 234 (2021): 49-58. doi: https://doi.org/10.1016/j.ajo.2021.06.019
Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29. PMID: 34197781; PMCID: PMC8238639.
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The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment.

American journal of ophthalmology

Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR.
PMID: 34197781
Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29.

PURPOSE: To assess the impact of the COVID-19 pandemic and associated mitigation measures on persons with sensory impairments (SI), including visual impairments (VI) and hearing impairments (HI).DESIGN: Cross-sectional survey.METHODS: Adults with VI (best-corrected visual acuity

Cite
Bernard A, Weiss S, Rahman M, et al. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021;234:49-58doi: 10.1016/j.ajo.2021.06.019.
Bernard, A., Weiss, S., Rahman, M., Ulin, S. S., D'Souza, C., Salgat, A., Panzer, K., Stein, J. D., Meade, M. A., McKee, M. M., & Ehrlich, J. R. (2021). The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. American journal of ophthalmology, 23449-58. https://doi.org/10.1016/j.ajo.2021.06.019
Bernard, Alec, et al. "The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment." American journal of ophthalmology vol. 234 (2021): 49-58. doi: https://doi.org/10.1016/j.ajo.2021.06.019
Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29. PMID: 34197781; PMCID: PMC8238639.
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Meat Quality of Nellore Young Bulls-Effects of Different Days on Feed and Zilpaterol Hydrochloride Supplementation.

Animals : an open access journal from MDPI

Caetano M, Goulart RS, Silva SL, Pflanzer SB, Leme PR, Dos Santos ACR, Lanna DPD.
PMID: 34573654
Animals (Basel). 2021 Sep 14;11(9). doi: 10.3390/ani11092688.

Ninety-six Nellore young bulls were fed (90 or 117 day) diets containing ZH (8.33 mg/kg) for 0, 20, 30, or 40 days to evaluate the effects of days on feed (DOF) and length of zilpaterol hydrochloride (ZH) supplementation on...

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Caetano M, Goulart RS, Silva SL, et al. Meat Quality of Nellore Young Bulls-Effects of Different Days on Feed and Zilpaterol Hydrochloride Supplementation. Animals (Basel). 2021;11(9)doi: 10.3390/ani11092688.
Caetano, M., Goulart, R. S., Silva, S. L., Pflanzer, S. B., Leme, P. R., Dos Santos, A. C. R., & Lanna, D. P. D. (2021). Meat Quality of Nellore Young Bulls-Effects of Different Days on Feed and Zilpaterol Hydrochloride Supplementation. Animals : an open access journal from MDPI, 11(9), . https://doi.org/10.3390/ani11092688
Caetano, Mariana, et al. "Meat Quality of Nellore Young Bulls-Effects of Different Days on Feed and Zilpaterol Hydrochloride Supplementation." Animals : an open access journal from MDPI vol. 11,9 (2021). doi: https://doi.org/10.3390/ani11092688
Caetano M, Goulart RS, Silva SL, Pflanzer SB, Leme PR, Dos Santos ACR, Lanna DPD. Meat Quality of Nellore Young Bulls-Effects of Different Days on Feed and Zilpaterol Hydrochloride Supplementation. Animals (Basel). 2021 Sep 14;11(9). doi: 10.3390/ani11092688. PMID: 34573654; PMCID: PMC8467322.
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Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

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

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V.
PMID: 34522029
Genet Med. 2021 Oct;23(10):2016. doi: 10.1038/s41436-021-01306-7.

No abstract available.

Cite
Rodan LH, Spillmann RC, Kurata HT, et al. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021;23(10):2016doi: 10.1038/s41436-021-01306-7.
Rodan, L. H., Spillmann, R. C., Kurata, H. T., Lamothe, S. M., Maghera, J., Jamra, R. A., Alkelai, A., Antonarakis, S. E., Atallah, I., Bar-Yosef, O., Bilan, F., Bjorgo, K., Blanc, X., Van Bogaert, P., Bolkier, Y., Burrage, L. C., Christ, B. U., Granadillo, J. L., Dickson, P., Donald, K. A., Dubourg, C., Eliyahu, A., Emrick, L., Engleman, K., Gonfiantini, M. V., Good, J. M., Kalser, J., Kloeckner, C., Lachmeijer, G., Macchiaiolo, M., Nicita, F., Odent, S., O'Heir, E., Ortiz-Gonzalez, X., Pacio-Miguez, M., Palomares-Bralo, M., Pena, L., Platzer, K., Quinodoz, M., Ranza, E., Rosenfeld, J. A., Roulet-Perez, E., Santani, A., Santos-Simarro, F., Pode-Shakked, B., Skraban, C., Slaugh, R., Superti-Furga, A., Thiffault, I., van Jaabrsveld, R. H., Vincent, M., Wang, H. G., Zacher, P., Rush, E., Pitt, G. S., Au, P. Y. B., & Shashi, V. (2021). Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genetics in medicine : official journal of the American College of Medical Genetics, 23(10), 2016. https://doi.org/10.1038/s41436-021-01306-7
Rodan, Lance H, et al. "Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations." Genetics in medicine : official journal of the American College of Medical Genetics vol. 23,10 (2021): 2016. doi: https://doi.org/10.1038/s41436-021-01306-7
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):2016. doi: 10.1038/s41436-021-01306-7. PMID: 34522029.
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Brain : a journal of neurology

Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Billie Au PY, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Minh Le N, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS.
PMID: 34431999
Brain. 2021 Aug 25; doi: 10.1093/brain/awab321. Epub 2021 Aug 25.

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel NaV1.6, with the aim of describing clinical phenotypes related to functional effects. Six different clinical subgroups could be...

Cite
Johannesen KM, Liu Y, Koko M, et al. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2021;doi: 10.1093/brain/awab321.
Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., Sterbova, K., Lassuthová, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Billie Au, P. Y., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C. E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Minh Le, N., Christensen, J., Grønborg, S., Scherer, S. W., Howe, J., Fazeli, W., Howell, K. B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B., Matricardi, S., Bonardi, C. M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vøllo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M. S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K. E., Eisenhauer, N., Wagner, M., Savatt, J. M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M. C., Destrée, A., Schoonjans, A. S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W. H., Olson, H. E., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M. P., Goldberg, E. M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H., & Møller, R. S. (2021). Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain : a journal of neurology, . https://doi.org/10.1093/brain/awab321
Johannesen, Katrine M, et al. "Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications." Brain : a journal of neurology vol. (2021). doi: https://doi.org/10.1093/brain/awab321
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Billie Au PY, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Minh Le N, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2021 Aug 25; doi: 10.1093/brain/awab321. Epub 2021 Aug 25. PMID: 34431999.
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Assessing the impact of COVID-19 on persons with disabilities: development of a novel survey.

International journal of public health

Bernard A, Weiss S, Stein JD, Ulin SS, D'Souza C, Salgat A, Panzer K, Riddering A, Edwards P, Meade M, McKee MM, Ehrlich JR.
PMID: 32705300
Int J Public Health. 2020 Jul;65(6):755-757. doi: 10.1007/s00038-020-01433-z. Epub 2020 Jul 23.

No abstract available.

Cite
Bernard A, Weiss S, Stein JD, et al. Assessing the impact of COVID-19 on persons with disabilities: development of a novel survey. Int J Public Health. 2020;65(6):755-757doi: 10.1007/s00038-020-01433-z.
Bernard, A., Weiss, S., Stein, J. D., Ulin, S. S., D'Souza, C., Salgat, A., Panzer, K., Riddering, A., Edwards, P., Meade, M., McKee, M. M., & Ehrlich, J. R. (2020). Assessing the impact of COVID-19 on persons with disabilities: development of a novel survey. International journal of public health, 65(6), 755-757. https://doi.org/10.1007/s00038-020-01433-z
Bernard, Alec, et al. "Assessing the impact of COVID-19 on persons with disabilities: development of a novel survey." International journal of public health vol. 65,6 (2020): 755-757. doi: https://doi.org/10.1007/s00038-020-01433-z
Bernard A, Weiss S, Stein JD, Ulin SS, D'Souza C, Salgat A, Panzer K, Riddering A, Edwards P, Meade M, McKee MM, Ehrlich JR. Assessing the impact of COVID-19 on persons with disabilities: development of a novel survey. Int J Public Health. 2020 Jul;65(6):755-757. doi: 10.1007/s00038-020-01433-z. Epub 2020 Jul 23. PMID: 32705300; PMCID: PMC7377305.
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Solid-Phase-Based Total Synthesis and Stereochemical Assignment of the Cryptic Natural Product Aurantizolicin.

Organic letters

Oberheide A, Pflanze S, Stallforth P, Arndt HD.
PMID: 30633530
Org Lett. 2019 Feb 01;21(3):729-732. doi: 10.1021/acs.orglett.8b03940. Epub 2019 Jan 11.

The total synthesis and stereochemical assignment of the polyazole cyclopeptide aurantizolicin was achieved by connecting the solution synthesis of building blocks with solid-phase peptide synthesis. Macrothiolactonization and an aza-Wittig reaction provided the natural product macrocycle in high yield as...

Cite
Oberheide A, Pflanze S, Stallforth P, et al. Solid-Phase-Based Total Synthesis and Stereochemical Assignment of the Cryptic Natural Product Aurantizolicin. Org Lett. 2019;21(3):729-732doi: 10.1021/acs.orglett.8b03940.
Oberheide, A., Pflanze, S., Stallforth, P., & Arndt, H. D. (2019). Solid-Phase-Based Total Synthesis and Stereochemical Assignment of the Cryptic Natural Product Aurantizolicin. Organic letters, 21(3), 729-732. https://doi.org/10.1021/acs.orglett.8b03940
Oberheide, Ansgar, et al. "Solid-Phase-Based Total Synthesis and Stereochemical Assignment of the Cryptic Natural Product Aurantizolicin." Organic letters vol. 21,3 (2019): 729-732. doi: https://doi.org/10.1021/acs.orglett.8b03940
Oberheide A, Pflanze S, Stallforth P, Arndt HD. Solid-Phase-Based Total Synthesis and Stereochemical Assignment of the Cryptic Natural Product Aurantizolicin. Org Lett. 2019 Feb 01;21(3):729-732. doi: 10.1021/acs.orglett.8b03940. Epub 2019 Jan 11. PMID: 30633530.
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