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11. IPCC, 2021: Climate Change 2021: The Physical Science Basis. Contribution of Working Group I to the Sixth Assessment Report of the Intergovernmental Panel on Climate Change

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S. L., Pean, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M. I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J. B. R., Maycock, T. K., Waterfield, T., Yelekci, O., Yu, R., Zhou, B., Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S. L., Pean, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M. I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J. B. R., Maycock, T. K., Waterfield, T., Yelekci, O., Yu, R., and Zhou, B.

Published
2021
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12. Global Carbon and other Biogeochemical Cycles and Feedbacks

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Conners, S. L., Pean, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M. I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J. B. R., Maycock, T. K., Waterfield, T., Yelekci, O., Yu, R., Zhou, B., Costa, Marcos H., Cotrim da Cunha, Leticia, Cox, Peter M., Eliseev, Alexey V., Hensen, Stephanie, Ishii, Masao, Jaccard, Samuel, Koven, Charles, Lohila, Annalea, Patra, Prabir K., Piao, Shilong, Rogelj, Joeri, Syampungani, Stephen, Zaehle, Sönke, Zickfeld, Kirsten, Alexandrov, Georgii, Bala, Govindasamy, Bopp, Laurent, Boysen, Lena, Cao, Long, Chandra, Naveen, Ciais, Philippe, Denisov, Sergey N., Dentener, Frank J., Douville, Herve, Fay, Amanda, Forster, Piers, Fox-Kemper, Baylor, Friedlingstein, Pierre, Fu, Weiwei, Fuss, Sabine, Garcon, Veronique, Gier, Bettina, Gillett, Nathan P., Gregor, Luke, Haustein, Karsten, Haverd, Vanessa, He, Jian, Hewitt, Helene T., Hoffman, Forrest M., Ilyina, Tatiana, Jackson, Robert, Jones, Christopher, Keller, David P., Kwiatkowski, Lester, Lamboll, Robin D., Lan, Xin, Laufkötter, Charlotte, Le Quere, Corinne, Lenton, Andrew, Lewis, Jared, Liddicoat, Spencer, Lorenzoni, Laura, Lovenduski, Nicole, MacDougall, Andrew H., Mathesius, Sabine, Matthews, Damon H., Meinshausen, Malte, Mokhov, Igor I., Naik, Vaishali, Nicholls, Zebedee R. J., Nurhati, Intan Suci, O'Sullivan, Michael, Peters, Glen, Pongratz, Julia, Poulter, Benjamin, Sallee, Jean-Baptiste, Saunois, Marielle, Schuur, Edward A. G., Seneviratne, Sonia I., Stavert, Ann, Suntharalingam, Parvadha, Tachiiri, Kaoru, Terhaar, Jens, Thompson, Rona, Tian, Hanqin, Turnbull, Jocelyn, Vicente-Serrano, Sergio M., Wang, Xuhui, Wanninkhof, Rik, Williamson, Phil, Masson-Delmotte, V., Zhai, P., Pirani, A., Conners, S. L., Pean, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M. I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J. B. R., Maycock, T. K., Waterfield, T., Yelekci, O., Yu, R., Zhou, B., Costa, Marcos H., Cotrim da Cunha, Leticia, Cox, Peter M., Eliseev, Alexey V., Hensen, Stephanie, Ishii, Masao, Jaccard, Samuel, Koven, Charles, Lohila, Annalea, Patra, Prabir K., Piao, Shilong, Rogelj, Joeri, Syampungani, Stephen, Zaehle, Sönke, Zickfeld, Kirsten, Alexandrov, Georgii, Bala, Govindasamy, Bopp, Laurent, Boysen, Lena, Cao, Long, Chandra, Naveen, Ciais, Philippe, Denisov, Sergey N., Dentener, Frank J., Douville, Herve, Fay, Amanda, Forster, Piers, Fox-Kemper, Baylor, Friedlingstein, Pierre, Fu, Weiwei, Fuss, Sabine, Garcon, Veronique, Gier, Bettina, Gillett, Nathan P., Gregor, Luke, Haustein, Karsten, Haverd, Vanessa, He, Jian, Hewitt, Helene T., Hoffman, Forrest M., Ilyina, Tatiana, Jackson, Robert, Jones, Christopher, Keller, David P., Kwiatkowski, Lester, Lamboll, Robin D., Lan, Xin, Laufkötter, Charlotte, Le Quere, Corinne, Lenton, Andrew, Lewis, Jared, Liddicoat, Spencer, Lorenzoni, Laura, Lovenduski, Nicole, MacDougall, Andrew H., Mathesius, Sabine, Matthews, Damon H., Meinshausen, Malte, Mokhov, Igor I., Naik, Vaishali, Nicholls, Zebedee R. J., Nurhati, Intan Suci, O'Sullivan, Michael, Peters, Glen, Pongratz, Julia, Poulter, Benjamin, Sallee, Jean-Baptiste, Saunois, Marielle, Schuur, Edward A. G., Seneviratne, Sonia I., Stavert, Ann, Suntharalingam, Parvadha, Tachiiri, Kaoru, Terhaar, Jens, Thompson, Rona, Tian, Hanqin, Turnbull, Jocelyn, Vicente-Serrano, Sergio M., Wang, Xuhui, Wanninkhof, Rik, and Williamson, Phil

Published
2021

13. Future global climate: scenario-based projections and near-term information

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S. L., Pean, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M. I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J. B. R., Maycock, T. K., Waterfield, T., Yelekçi, O., Yu, R., Zhou, B., Lee, June-Yi, Marotzke, Jochem, Bala, Govindasamy, Cao, Long, Corti, Susanna, Dunne, John P., Engelbrecht, Francois, Fischer, Erich, Fyfe, John C., Jones, Christopher, Maycock, Amanda, Mutemi, Joseph, Ndiaye, Ousmane, Panickal, Swapna, Zhou, Tianjun, Milinski, Sebastian, Yun, Kyung-Sook, Armour, Kyle, Bellouin, Nicolas, Bethke, Ingo, Byrne, Michael P., Cassou, Christophe, Chen, Deliang, Cherchi, Annalisa, Christensen, Hannah M., Connors, Sarah L., Di Luca, Alejandro, Drijfhout, Sybren S., Fletcher, Christopher G., Forster, Piers, Garcia-Serrano, Javier, Gillett, Nathan P., Kaufmann, Darrell S., Keller, David P., Kravitz, Ben, Li, Hongmei, Liang, Yongxiao, MacDougall, Andrew H., Malinina, Elizaveta, Menary, Matthew, Merryfield, William J., Min, Seung-Ki, Nicholls, Zebedee R. J., Notz, Dirk, Pearson, Brodie, Priestley, Matthew D. K., Quaas, Johannes, Ribes, Aurelien, Ruane, Alex C., Sallee, Jean-Baptiste, Sanchez-Gomez, Emilia, Seneviratne, Sonia I., Slangen, Aimee B. A., Smith, Chris, Stuecker, Malte F., Swaminathan, Ranjini, Thorne, Peter W., Tokarska, Katarzyna B., Toohey, Matthew, Turner, Andrew, Volpi, Danila, Xiao, Cunde, Zappa, Giuseppe, Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S. L., Pean, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M. I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J. B. R., Maycock, T. K., Waterfield, T., Yelekçi, O., Yu, R., Zhou, B., Lee, June-Yi, Marotzke, Jochem, Bala, Govindasamy, Cao, Long, Corti, Susanna, Dunne, John P., Engelbrecht, Francois, Fischer, Erich, Fyfe, John C., Jones, Christopher, Maycock, Amanda, Mutemi, Joseph, Ndiaye, Ousmane, Panickal, Swapna, Zhou, Tianjun, Milinski, Sebastian, Yun, Kyung-Sook, Armour, Kyle, Bellouin, Nicolas, Bethke, Ingo, Byrne, Michael P., Cassou, Christophe, Chen, Deliang, Cherchi, Annalisa, Christensen, Hannah M., Connors, Sarah L., Di Luca, Alejandro, Drijfhout, Sybren S., Fletcher, Christopher G., Forster, Piers, Garcia-Serrano, Javier, Gillett, Nathan P., Kaufmann, Darrell S., Keller, David P., Kravitz, Ben, Li, Hongmei, Liang, Yongxiao, MacDougall, Andrew H., Malinina, Elizaveta, Menary, Matthew, Merryfield, William J., Min, Seung-Ki, Nicholls, Zebedee R. J., Notz, Dirk, Pearson, Brodie, Priestley, Matthew D. K., Quaas, Johannes, Ribes, Aurelien, Ruane, Alex C., Sallee, Jean-Baptiste, Sanchez-Gomez, Emilia, Seneviratne, Sonia I., Slangen, Aimee B. A., Smith, Chris, Stuecker, Malte F., Swaminathan, Ranjini, Thorne, Peter W., Tokarska, Katarzyna B., Toohey, Matthew, Turner, Andrew, Volpi, Danila, Xiao, Cunde, and Zappa, Giuseppe

Published
2021

14. Framing, Context, and Methods (Chapter 1)

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Chen, D., Rojas, M., Samset, B.H., Cobb, K., Diongue Niang, A., Edwards, P., Emori, S., Faria, S.H., Hawkins, E., Hope, P., Huybrechts, P., Meinshausen, M., Mustafa, S.K., Plattner, G.-K., Tréguier, A.M., Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Chen, D., Rojas, M., Samset, B.H., Cobb, K., Diongue Niang, A., Edwards, P., Emori, S., Faria, S.H., Hawkins, E., Hope, P., Huybrechts, P., Meinshausen, M., Mustafa, S.K., Plattner, G.-K., and Tréguier, A.M.

Abstract

Working Group I (WGI) of the Intergovernmental Panel on Climate Change (IPCC) assesses the current evidence on the physical science of climate change, evaluating knowledge gained from observations, reanalyses, paleoclimate archives and climate model simulations, as well as physical, chemical and biological climate processes. This chapter sets the scene for the WGI Assessment, placing it in the context of ongoing global and regional changes, international policy responses, the history of climate science and the evolution from previous IPCC assessments, including the Special Reports prepared as part of this Assessment Cycle. This chapter presents key concepts and methods, relevant recent developments, and the modelling and scenario framework used in this Assessment.

Published
2021

15. Short-Lived Climate Forcers (Chapter 6)

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Szopa, S., Naik, V., Adhikary, B., Artaxo, P., Berntsen, T., Collins, W.D., Fuzzi, S., Gallardo, L., Kiendler-Scharr, A., Klimont, Z., Liao, H., Unger, N., Zanis, P., Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Szopa, S., Naik, V., Adhikary, B., Artaxo, P., Berntsen, T., Collins, W.D., Fuzzi, S., Gallardo, L., Kiendler-Scharr, A., Klimont, Z., Liao, H., Unger, N., and Zanis, P.

Abstract

Short-lived climate forcers (SLCFs) affect climate and are, in most cases, also air pollutants. They include aerosols (sulphate, nitrate, ammonium, carbonaceous aerosols, mineral dust and sea spray), which are also called particulate matter (PM), and chemically reactive gases (methane, ozone, some halogenated compounds, nitrogen oxides, carbon monoxide, non-methane volatile organic compounds, sulphur dioxide and ammonia). Except for methane and some halogenated compounds whose lifetimes are about a decade or more, SLCF abundances are spatially highly heterogeneous since they only persist in the atmosphere from a few hours to a couple of months. SLCFs are either radiatively active or influence the abundances of radiatively active compounds through chemistry (chemical adjustments), and their climate effect occurs predominantly in the first two decades after their emission or formation. They can have either a cooling or warming effect on climate, and they also affect precipitation and other climate variables. Methane and some halogenated compounds are included in climate treaties, unlike the other SLCFs that are nevertheless indirectly affected by climate change mitigation since many of them are often co-emitted with CO2 in combustion processes. This chapter assesses the changes, in the past and in a selection of possible futures, of the emissions and abundances of individual SLCFs primarily on global to continental scales, and how these changes affect the Earth’s energy balance through radiative forcing and feedback in the climate system. The attribution of climate and air-quality changes to emissions sectors and regions, and the effects of SLCF mitigations defined for various environmental purposes, are also assessed.

Published
2021

16. Summary For Policymakers

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., IPCC, Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., and IPCC

Abstract

This Summary for Policymakers (SPM) presents key findings of the Working Group I (WGI) contribution to the Intergovernmental Panel on Climate Change (IPCC) Sixth Assessment Report (AR6)1 on the physical science basis of climate change. The report builds upon the 2013 Working Group I contribution to the IPCC’s Fifth Assessment Report (AR5) and the 2018–2019 IPCC Special Reports of the AR6 cycle and incorporates subsequent new evidence from climate science.

Published
2021

17. Weather and Climate Extreme Events in a Changing Climate (Chapter 11)

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Seneviratne, S.I., Zhang, X., Adnan, M., Badi, W., Dereczynski, C., Di Luca, A., Ghosh, S., Iskander, I., Kossin, J., Lewis, S., Otto, F., Pinto, I., Satoh, M., Vicente-Serrano, S.M., Wehner, M., Zhou, B., Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Seneviratne, S.I., Zhang, X., Adnan, M., Badi, W., Dereczynski, C., Di Luca, A., Ghosh, S., Iskander, I., Kossin, J., Lewis, S., Otto, F., Pinto, I., Satoh, M., Vicente-Serrano, S.M., Wehner, M., and Zhou, B.

Abstract

This chapter assesses changes in weather and climate extremes on regional and global scales, including observed changes and their attribution, as well as projected changes. The extremes considered include temperature extremes, heavy precipitation and pluvial floods, river floods, droughts, storms (including tropical cyclones), as well as compound events (multivariate and concurrent extremes). The assessment focuses on land regions excluding Antarctica.

Published
2021

18. Human Influence on the Climate System (Chapter 3)

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Eyring, V., Gillett, N.P., Achuta Rao, K.M., Barimalala, R., Barreiro Parrillo, M., Bellouin, N., Cassou, C., Durack, P.J., Kosaka, Y., McGregor, S., Min, S., Morgenstern, O., Sun, Y., Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I, Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, K., Yu, R., Zhu, B., Eyring, V., Gillett, N.P., Achuta Rao, K.M., Barimalala, R., Barreiro Parrillo, M., Bellouin, N., Cassou, C., Durack, P.J., Kosaka, Y., McGregor, S., Min, S., Morgenstern, O., and Sun, Y.

Abstract

The AR5 concluded that human influence on the climate system is clear, evident from increasing greenhouse gas concentrations in the atmosphere, positive radiative forcing, observed warming, and physical understanding of the climate system. This chapter updates the assessment of human influence on the climate system for large-scale indicators of climate change, synthesizing information from paleo records, observations and climate models. It also provides the primary evaluation of large-scale indicators of climate change in this Report, complemented by fitness-for-purpose evaluation in subsequent chapters.

Published
2021

19. Changing state of the climate system

Author

Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, O., Yu, R., Zhou, B., Gulev, S.K., Thorne, P.W., Ahn, J., Dentener, F.J., Domingues, C.M., Gerland, S., Gong, D., Kaufman, D.S, Nnamchi, H.C., Quaas, J., Rivera, J.A., Sathyendranath, S., Smith, S.L., Trewin, B., von Schuckmann, K., Vose, R.S., Masson-Delmotte, V., Zhai, P., Pirani, A., Connors, S.L., Péan, C., Berger, S., Caud, N., Chen, Y., Goldfarb, L., Gomis, M.I., Huang, M., Leitzell, K., Lonnoy, E., Matthews, J.B.R., Maycock, T.K., Waterfield, T., Yelekçi, O., Yu, R., Zhou, B., Gulev, S.K., Thorne, P.W., Ahn, J., Dentener, F.J., Domingues, C.M., Gerland, S., Gong, D., Kaufman, D.S, Nnamchi, H.C., Quaas, J., Rivera, J.A., Sathyendranath, S., Smith, S.L., Trewin, B., von Schuckmann, K., and Vose, R.S.

Abstract

Chapter 2 assesses observed large-scale changes in climate system drivers, key climate indicators and principal modes of variability. Chapter 3 considers model performance and detection/attribution, and Chapter 4 covers projections for a subset of these same indicators and modes of variability. Collectively, these chapters provide the basis for later chapters, which focus upon processes and regional changes. Within Chapter 2, changes are assessed from in situ and remotely sensed data and products and from indirect evidence of longer-term changes based upon a diverse range of climate proxies. The time-evolving availability of observations and proxy information dictate the periods that can be assessed. Wherever possible, recent changes are assessed for their significance in a longer-term context, including target proxy periods, both in terms of mean state and rates of change.

Published
2021

20. Impaired Statistical Learning with Mathematical Learning Difficulties

Author

Goldfarb L, Turk-Browne N, and Levy S

Subjects
business.industry, Statistical learning, Computer science, Mathematical learning, Machine learning, computer.software_genre, complex mixtures, bepress|Social and Behavioral Sciences|Psychology|Cognitive Psychology, PsyArXiv|Social and Behavioral Sciences, Text mining, bepress|Social and Behavioral Sciences, PsyArXiv|Social and Behavioral Sciences|Cognitive Psychology, Artificial intelligence, business, computer
Abstract

Rapid extraction of temporal and spatial patterns from repeated experience is known as statistical learning (SL). Studies on SL show that after a few minutes of exposure, observers exhibit knowledge of regularities hidden in a sequence or array of objects. Previous findings suggest that SL might relate to numerical processing mechanisms. Hence, the current study examines for the first time SL in a population with a deficiency in the numerical system: individuals with mathematical learning difficulties (MLD). The results revealed that SL was significantly worse in the MLD group than in a control group. In addition, whereas the control group showed reliable SL above chance, the MLD group did not. Because learned regularities can broadly facilitate cognitive processing, individuals with MLD may thus suffer from additional behavioral challenges beyond their numerical difficulties.

Published
2020

24. Poems from Parts of a World : 'Parochial Theme' and 'Country Words'

Author

Han, Gül Bilge Han, MacLeod, G., Altieri, C., Bacigalupo, M., Eeckhout, B., Goldfarb, L., Malkin, R., McLane, M.N., Ragg, E., Sharpe, T., Utard, J., Han, Gül Bilge Han, MacLeod, G., Altieri, C., Bacigalupo, M., Eeckhout, B., Goldfarb, L., Malkin, R., McLane, M.N., Ragg, E., Sharpe, T., and Utard, J.

Published
2019
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28. Desmin myopathy

Author

Goldfarb, L. G., Vicart, P., Goebel, H. H., and Dalakas, M. C.

Published
2004

32. Angular Correlations

Author

Devons, S., Goldfarb, L. J. B., Flügge, S., editor, Alburger, D. E., Perlman, I., Rasmussen, J. O., Hyde, Earl K., Seaborg, Glenn T., Bishop, George R., Wilson, Richard, Devons, S., Goldfarb, L. J. B., Blin-Stoyle, R. J., and Grace, M. A.

Published
1957
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40. Intranuclear protein aggregation in myofibrillar myopathies

Author

Dominguez Rubio, R., primary, Martinez, A., additional, Poza, J., additional, García Bragado, F., additional, Jericó, I., additional, van der Ven, P., additional, Fürst, D., additional, Romero, N., additional, Goldfarb, L., additional, and Olivé, M., additional

Published
2016
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41. New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

Author

Maerkens, A., primary, Olivé, M., additional, Schreiner, A., additional, Feldkirchner, S., additional, Schessl, J., additional, Uszkoreit, J., additional, Barkovits, K., additional, Güttsches, A. K., additional, Theis, V., additional, Eisenacher, M., additional, Tegenthoff, M., additional, Goldfarb, L. G., additional, Schröder, R., additional, Schoser, B., additional, van der Ven, P. F. M., additional, Fürst, D. O., additional, Vorgerd, M., additional, Marcus, K., additional, and Kley, R. A., additional

Published
2016
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42. INHERITED PRION DISEASES

Author

Kong Q, Surewicz WK, Petersen RB, Zou W, Chen SG, Gambetti P, Goldfarb L, Lugaresi E, Piccardo P, Ghetti B., PARCHI, PIERO, CAPELLARI, SABINA, MONTAGNA, PASQUALE, S.B. PRUSINER, Kong Q, Surewicz WK, Petersen RB, Zou W, Chen SG, Gambetti P, Parchi P, Capellari S, Goldfarb L, Montagna P, Lugaresi E, Piccardo P, and Ghetti B.

Subjects
PRION, TSE, FAMILIAL
Published
2004

46. Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: A novel myotilinopathy phenotype?

Author

Gamez J, Armstrong-Moron J, Shatunov A, Selva-O'Callaghan A, Dominguez-Oronoz R, Ortega A, Goldfarb L, Ferrer I, and Olivé M

Abstract

Myotilinopathies are a group of muscle disorders caused by mutations in the MYOT gene. It was first described in two families suffering from limb girdle muscle dystrophy type 1 (LGMD 1A), and later identified in a subset of dominant or sporadic patients suffering from myofibrillar myopathy, as well as in a family with spheroid body myopathy. Disease phenotypes associated with MYOT mutations are clinically heterogeneous and include pure LGMD forms as well as late-onset distal myopathies. We report here on a 53-year-old male suffering from a unique clinical profile characterized by generalized symmetrical increase in muscle bulk leading to a Herculean appearance. Muscle weakness and stiffness in the lower extremities were the patient's main complaints. Muscle MRI showed extensive fatty infiltration in the thigh and leg muscles and a muscle biopsy showed a myofibrillar myopathy with prominent protein aggregates. Gene sequencing revealed a Ser55Phe missense mutation in the myotilin gene. The mutation was identified in his older brother, who presented a mild hypertrophic appearance and had a myopathic pattern in EMG, despite not presenting any of the complaints of the proband and having normal muscle strength. This finding, and his deceased father and paternal aunt's similar gait disorders, suggest that this is in fact a new autosomal dominant kindred. The present observations further expand the spectrum of clinical manifestations associated with mutations in the myotilin gene.

Published
2009

47. Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Author

Olivé M, Armstrong-Moron J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martínez F, Fischer D, Martínez Matos JA, Shatunov A, Goldfarb L, and Ferrer I

Subjects
musculoskeletal system
Abstract

Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations.

Published
2007

48. Kernreaktionen III / Nuclear Reactions III

Author

Alburger, D. E., primary, Perlman, I., additional, Rasmussen, J. O., additional, Hyde, Earl K., additional, Seaborg, Glenn T., additional, Bishop, George R., additional, Wilson, Richard, additional, Devons, S., additional, Goldfarb, L. J. B., additional, Blin-Stoyle, R. J., additional, and Grace, M. A., additional

Published
1957
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