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M

Mario Saporta

University of Miami Miller School of Medicine
H指数:32
被引数:3,211

个人简介

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教育背景

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工作经历

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荣誉奖项

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN
IF11.7
2025-08-013
OAAI
Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

ITPR3中的复发性错觉变体导致严重程度不同的charcot-marie-tooth脱髓鞘

BRAIN
IF11.7
2024-06-280
PRE
Beijer, Danique; Dohrn, Maike F.; Rebelo, Adriana; Danzi, Matt C.; Grosz, Bianca Rose; Ellis, Melina; Kumar, Kishore R.; Vucic, Steve; Vais, Horia; Weissenrieder, Jillian S.; Lunko, Olesia; Paudel, Usha; Simpson, Leah C.; Camarena, Vladimir; Raposo, Jacquelyn; Saporta, Mario; Arcia, Yeisha; Xu, Isaac; Feely, Shawna; Record, Christopher J.; Blake, Julian; Reilly, Mary M.; Scherer, Steven S.; Kennerson, Marina; Lee, Yi-Chung; Foskett, J. Kevin; Shy, Michael E.; Inherited Neuropathy Consortium, Stephan; Zuchner, Stephan
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs

使用iPSCs对遗传性周围神经病进行建模的进展和挑战

EXPERIMENTAL AND MOLECULAR MEDICINE
IF12.9
2024-06-031
OAAI
Van Lent, Jonas; Prior, Robert; Siles, Gonzalo Perez; Cutrupi, Anthony N.; Kennerson, Marina L.; Vangansewinkel, Tim; Wolfs, Esther; Mukherjee-Clavin, Bipasha; Nevin, Zachary; Judge, Luke; Conklin, Bruce; Tyynismaa, Henna; Clark, Alex J.; Bennett, David L.; Van Den Bosch, Ludo; Saporta, Mario; Timmerman, Vincent
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
2024-04-051
PRE
Xu, Isaac R. L.; Danzi, Matt C.; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M.; Cortese, Andrea; Shy, Michael E.; Scherer, Steven S.; Herrmann, David N.; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G.; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P.; Dohrn, Maike F.; Zuchner, Stephan
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-02-042
OA
Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E.; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A.; Dyment, David A.; Sampson, Jacinda B.; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S.; Mcwalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A. Reghan; Mammen, Andrew L.; Wheeler, Matthew T.; O'Donnell-Luria, Anne; Bonnemann, Carsten G.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

由于GJB1变异引起的charcot-marie-tooth病CMTX1的遗传分析和自然史

BRAIN
IF11.7
2023-06-0712
OAAI
Record, Christopher J.; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M.; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M. E.; Lloyd, Thomas E.; Horvath, Rita; Sadjadi, Reza; Herrmann, David N.; Li, Jun; Walk, David; Yum, Sabrina W.; Lewis, Richard A.; Day, John; Burns, Joshua; Finkel, Richard S.; Saporta, Mario A.; Ramchandren, Sindhu; Weiss, Michael D.; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M.; Zuchner, Stephan; Shy, Michael E.; Scherer, Steven S.; Reilly, Mary M.
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

COQ7的双等位基因变异导致远端遗传性运动神经病伴上运动神经元体征

BRAIN
IF11.7
2023-05-1212
PRE
Rebelo, Adriana P.; Tomaselli, Pedro J.; Medina, Jessica; Wang, Ying; Dohrn, Maike F.; Nyvltova, Eva; Danzi, Matt C.; Garrett, Mark; Smith, Sean E.; Pestronk, Alan; Li, Chengcheng; Ruiz, Ariel; Jacobs, Elizabeth; Feely, Shawna M. E.; Franca Jr, Marcondes C.; Gomes, Marcus, V; Santos, Diogo F.; Kumar, Surinder; Lombard, David B.; Saporta, Mario; Hekimi, Siegfried; Barrientos, Antoni; Weihl, Conrad; Shy, Michael E.; Marques, Wilson; Zuchner, Stephan
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

迟发性小脑共济失调中的深层内含子FGF14 GAA重复扩增

NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2023-01-12108
OA
Pellerin, D.; Danzi, M. C.; Wilke, C.; Renaud, M.; Fazal, S.; Dicaire, M. -J; Scriba, C. K.; Ashton, C.; Yanick, C.; Beijer, D.; Rebelo, A.; Rocca, C.; Jaunmuktane, Z.; Sonnen, J. A.; Lariviere, R.; Genis, D.; Porcel, L. Molina; Choquet, K.; Sakalla, R.; Provost, S.; Robertson, R.; Allard-Chamard, X.; Tetreault, M.; Reiling, S. J.; Nagy, S.; Nishadham, V; Purushottam, M.; Vengalil, S.; Bardhan, M.; Nalini, A.; Chen, Z.; Mathieu, J.; Massie, R.; Chalk, C. H.; Lafontaine, A. -L; Evoy, F.; Rioux, M. -F; Ragoussis, J.; Boycott, K. M.; Dube, M. -P; Duquette, A.; Houlden, H.; Ravenscroft, G.; Laing, N. G.; Lamont, P. J.; Saporta, M. A.; Schuele, R.; Schoels, L.; La Piana, R.; Synofzik, M.; Zuchner, S.; Brais, B.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

PRKAR1B的变异导致自闭症谱系障碍，失用症和对疼痛不敏感的神经发育障碍

GENETICS IN MEDICINE
IF6.2
2021-08-0115
OAAI
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

2A型charcot-marie-tooth病的自然史: 一项大型国际多中心研究

BRAIN
IF11.7
2021-01-0837
OAAI
Pipis, Menelaos; Feely, Shawna M. E.; Polke, James M.; Skorupinska, Mariola; Perez, Laura; Shy, Rosemary R.; Laura, Matilde; Morrow, Jasper M.; Moroni, Isabella; Pisciotta, Chiara; Taroni, Franco; Vujovic, Dragan; Lloyd, Thomas E.; Acsadi, Gyula; Yum, Sabrina W.; Lewis, Richard A.; Finkel, Richard S.; Herrmann, David N.; Day, John W.; Li, Jun; Saporta, Mario; Sadjadi, Reza; Walk, David; Burns, Joshua; Muntoni, Francesco; Ramchandren, Sindhu; Horvath, Rita; Johnson, Nicholas E.; Zuchner, Stephan; Pareyson, Davide; Scherer, Steven S.; Rossor, Alexander M.; Shy, Michael E.; Reilly, Mary M.
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
NEUROLOGY
IF8.5
2020-03-0334
OAAI
Fridman, Vera; Sillau, Stefan; Acsadi, Gyula; Bacon, Chelsea; Dooley, Kimberly; Burns, Joshua; Day, John; Feely, Shawna; Finkel, Richard S.; Grider, Tiffany; Gutmann, Laurie; Herrmann, David N.; Kirk, Callyn A.; Knause, Sarrah A.; Laura, Matilde; Lewis, Richard A.; Li, Jun; Lloyd, Thomas E.; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Giuseppe; Ramchandren, Sindhu; Saporta, Mario; Sadjadi, Reza; Shy, Rosemary R.; Siskind, Carly E.; Sumner, Charlotte J.; Walk, David; Wilcox, Janel; Yum, Sabrina W.; Zuchner, Stephan; Scherer, Steven S.; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.

研究方向

暂未获取到该数据
M
Michael E. Shy
H 指数:73论文数:435被引数:1.7万
A
Adriana Rebelo
H 指数:29论文数:100被引数:3,323
S
Stephan Züchner
H 指数:76论文数:423被引数:2.2万
S
Steven S. Scherer
H 指数:80论文数:298被引数:2.0万
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
S
Shawna Feely
H 指数:27论文数:81被引数:3,113
D
David N. Herrmann
H 指数:35论文数:226被引数:4,181
P
Pareyson, Davide
H 指数:0论文数:5被引数:147
R
Richard A. Lewis
H 指数:59论文数:253被引数:1.2万
M
Maike F. Dohrn
H 指数:17论文数:116被引数:961