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Payam Mohassel

Johns Hopkins University School of Medicine
H指数:27
被引数:2,554

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NAD+ dyshomeostasis in RYR1-related myopathies

RYR1-related肌病中的NAD失调

Skeletal Muscle
IF4.4
2025-09-230
OAAI
Tokunbor A. Lawal; Willa Riekhof; Linda Groom; Pooja Varma; Irene C. Chrismer; Angela Kokkinis; Christopher Grunseich; Jessica W. Witherspoon; Muslima S. Razaqyar; Ninet Sinaii; Katherine G. Meilleur; Lichen Xiang; Jana Buzkova; Liliya Euro; Payam Mohassel; Robert T. Dirksen; Joshua J. Todd
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Intrathecal Gene Therapy for Giant Axonal Neuropathy
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-03-219
PRE
Bharucha-Goebel, Diana X.; Todd, Joshua J.; Saade, Dimah; Norato, Gina; Jain, Minal; Lehky, Tanya; Bailey, Rachel M.; Chichester, Jessica A.; Calcedo, Roberto; Armao, Diane; Foley, A. Reghan; Mohassel, Payam; Tesfaye, Eshetu; Carlin, Bradley P.; Seremula, Beth; Waite, Melissa; Zein, Wadih M.; Huryn, Laryssa A.; Crawford, Thomas O.; Sumner, Charlotte J.; Hoke, Ahmet; Heiss, John D.; Charnas, Lawrence; Hooper, Jody E.; Bouldin, Thomas W.; Kang, Elizabeth M.; Rybin, Denis; Gray, Steven J.; Bonnemann, Carsten G.
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.
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial
ECLINICALMEDICINE
IF10
2024-02-012
OAAI
Todd, Joshua J.; Lawal, Tokunbor A.; Chrismer, Irene C.; Kokkinis, Angela; Grunseich, Christopher; Jain, Minal S.; Waite, Melissa R.; Biancavilla, Victoria; Pocock, Shavonne; Brooks, Kia; Mendoza, Christopher J.; Norato, Gina; Cheung, Ken; Riekhof, Willa; Varma, Pooja; Colina-Prisco, Claudia; Emile-Backer, Magalie; Meilleur, Katherine G.; Marks, Andrew R.; Webb, Yael; Marcantonio, Eugene E.; Foley, A. Reghan; Boennemann, Carsten G.; Mohassel, Payam
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2023-11-246
OAAI
Syeda, Safoora B.; Lone, Museer A.; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; Franca, Marcondes C.; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D.; Lakhotia, Arpita; Shieh, Perry B.; Foley, A. Reghan; Jackson, Kelly E.; Chao, Katherine R.; Winder, Thomas L.; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M.; Hornemann, Thorsten; Bonnemann, Carsten G.
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2023-07-221
OA
Mohassel, Payam; Yun, Pomi; Syeda, Safoora; Batra, Abhinandan; Bradley, Andrew J.; Donkervoort, Sandra; Monges, Soledad; Cohen, Julie S.; Leung, Doris G.; Munell, Francina; Ortez, Carlos; Sanchez-Montanez, Angel; Karachunski, Peter; Brandsema, John; Medne, Livija; Chaudhry, Vinay; Tasca, Giorgio; Foley, A. Reghan; Udd, Bjarne; Arai, Andrew E.; Walter, Glenn A.; Bonnemann, Carsten G.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
BRAIN
IF11.7
2023-01-3014
OA
Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D.; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K. G.; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C.; Sadjadi, Reza; Elpeleg, Orly; Lee, Chia-Hsueh; Bellen, Hugo J.; Edvardson, Simon; Eichler, Florian; Dunn, Teresa M.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2022-08-107
OAAI
Fiorillo, Chiara; Capodivento, Giovanna; Geroldi, Alessandro; Tozza, Stefano; Moroni, Isabella; Mohassel, Payam; Cataldi, Matteo; Campana, Chiara; Morando, Simone; Panicucci, Chiara; Pedemonte, Marina; Brolatti, Noemi; Siliquini, Sabrina; Traverso, Monica; Baratto, Serena; Debellis, Doriana; Magri, Stefania; Prada, Valeria; Bellone, Emilia; Salpietro, Vincenzo; Donkervoort, Sandra; Gable, Kenneth; Gupta, Sita D.; Dunn, Teresa M.; Bonnemann, Carsten G.; Taroni, Franco; Bruno, Claudio; Schenone, Angelo; Mandich, Paola; Nobbio, Lucilla; Nolano, Maria
Slowly Progressive Limb-Girdle Weakness and HyperCKemia - Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?

缓慢进行性肢带无力和高钙血症-肢带肌营养不良或Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy？

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2022-06-204
PRE
Hiebeler, Miriam; Franke, Raimo; Ingenerf, Maria; Krause, Sabine; Mohassel, Payam; Pak, Katherine; Mammen, Andrew; Schoser, Benedikt; Boennemann, Carsten G.; Walter, Maggie C.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
NATURE COMMUNICATIONS
IF15.7
2022-04-2824
OAAI
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants
NEUROLOGY
IF8.5
2022-03-295
OA
Mohassel, Payam; Chang, Ning; Inoue, Kaoru; Delaney, Angela; Hu, Ying; Donkervoort, Sandra; Saade, Dimah; Billioux, B. Jeanne; Meader, Brooke; Volochayev, Rita; Konersman, Chamindra G.; Kaindl, Angela M.; Cho, Chie-Hee; Russell, Bianca; Rodriguez, Adrian; Foster, K. Wade; Foley, A. Reghan; Moore, Steven A.; Jones, Peter L.; Bonnemann, Carsten G.; Jones, Takako; Shaw, Natalie D.

研究方向

暂未获取到该数据
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.1万
S
Sandra Donkervoort
H 指数:46论文数:312被引数:9,118
A
A. Reghan Foley
H 指数:40论文数:173被引数:7,280
Y
Ying Hu
H 指数:11论文数:29被引数:413
D
Dimah Saade
H 指数:22论文数:76被引数:1,763
S
Sita D. Gupta
H 指数:21论文数:38被引数:1,779
K
Kenneth Gable
H 指数:27论文数:50被引数:2,540
M
M. Leach
H 指数:15论文数:65被引数:718
V
Volker Straub
H 指数:101论文数:962被引数:3.4万
T
Teresa Dunn
H 指数:51论文数:112被引数:7,973