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C

Christopher Grunseich

national institutes of health
H指数:35
被引数:4,709

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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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
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
NEUROBIOLOGY OF DISEASE
IF5.6
2024-08-010
OAAI
Diarra, Salimata; Ghosh, Saikat; Ciss, Lassana; Coulibaly, Thomas; Yalcouy, Abdoulaye; Harmison, George; Diallo, Salimata; Diallo, Seybou H.; Coulibaly, Oumar; Schindler, Alice; Ciss, Cheick A. K.; Maiga, Alassane B.; Bamba, Salia; Samassekou, Oumar; Khokha, Mustafa K.; Mis, Emily K.; Lakhani, Saquib A.; Donovan, Frank X.; Jacobson, Steve; Blackstone, Craig; Guinto, Cheick O.; Landour, Guida; Bonifacino, Juan S.; Fischbeck, Kenneth H.; Grunseich, Christopher
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
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-06-0116
OAAI
Morales-Rosado, Joel A.; Schwab, Tanya L.; Macklin-Mantia, Sarah K.; Foley, A. Reghan; Vairo, Filippo Pinto e; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A.; Boyum, Grace E.; Hu, Ying; Cong, Anh T. Q.; Lotze, Timothy E.; Mohila, Carrie A.; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R.; Grunseich, Christopher; Bruels, Christine C.; Littel, Hannah R.; Estrella, Elicia A.; Pais, Lynn; Kang, Peter B.; Zimmermann, Michael T.; Lupski, James R.; Lee, Brendan; Schellenberg, Matthew J.; Clark, Karl J.; Wierenga, Klaas J.; Bonnemann, Carsten G.; Klee, Eric W.
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
NATURE COMMUNICATIONS
IF15.7
2023-02-0613
OAAI
Prakasam, Ramachandran; Bonadiman, Angela; Andreotti, Roberta; Zuccaro, Emanuela; Dalfovo, Davide; Marchioretti, Caterina; Tripathy, Debasmita; Petris, Gianluca; Anderson, Eric N.; Migazzi, Alice; Tosatto, Laura; Cereseto, Anna; Battaglioli, Elena; Soraru, Gianni; Lim, Wooi Fang; Rinaldi, Carlo; Sambataro, Fabio; Pourshafie, Naemeh; Grunseich, Christopher; Romanel, Alessandro; Pandey, Udai Bhan; Contestabile, Andrea; Ronzitti, Giuseppe; Basso, Manuela; Pennuto, Maria
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity
SCIENCE ADVANCES
IF12.5
2021-08-2023
OAAI
Lim, Wooi F.; Forouhan, Mitra; Roberts, Thomas C.; Dabney, Jesse; Ellerington, Ruth; Speciale, Alfina A.; Manzano, Raquel; Lieto, Maria; Sangha, Gavinda; Banerjee, Subhashis; Conceicao, Mariana; Cravo, Lara; Biscans, Annabelle; Roux, Loic; Pourshafie, Naemeh; Grunseich, Christopher; Duguez, Stephanie; Khvorova, Anastasia; Pennuto, Maria; Cortes, Constanza J.; La Spada, Albert R.; Fischbeck, Kenneth H.; Wood, Matthew J. A.; Rinaldi, Carlo
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2021-06-0812
OAAI
Grunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A.; Sumner, Charlotte J.; Roda, Ricardo H.; Chaudhry, Vinay; Lloyd, Thomas E.; Crawford, Thomas O.; Subramony, S. H.; Oh, Shin J.; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y.; Fischbeck, Kenneth H.; Mankodi, Ami
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
NATURE MEDICINE
IF50
2021-05-31101
OAAI
Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A.; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D.; Foley, A. Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R.; Pourshafie, Naemeh; Neuhaus, Sarah B.; Saade, Dimah; Gangfuss, Andrea; Koelbel, Heike; Piccus, Zoe; Le Pichon, Claire E.; Fiorillo, Chiara; Ly, Cindy V.; Topf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P.; Chao, Katherine R.; Konersman, Chamindra G.; Cho, Megan T.; Brandt, Tracy; Straub, Volker; Connolly, Anne M.; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Hoke, Ahmet; Brown, Robert H.; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M.; Bonnemann, Carsten G.

研究方向

暂未获取到该数据
K
Kenneth H. Fischbeck
H 指数:77论文数:312被引数:2.5万
A
Alice B. Schindler
H 指数:21论文数:97被引数:1,691
V
Vivian G. Cheung
H 指数:42论文数:124被引数:1.2万
A
Angela Kokkinis
H 指数:15论文数:49被引数:915
C
Carlo Rinaldi
H 指数:30论文数:94被引数:3,388
G
George G. Harmison
H 指数:23论文数:53被引数:2,047
C
Carsten G. Bönnemann
H 指数:76论文数:547被引数:2.2万
M
Maria Pennuto
H 指数:38论文数:142被引数:6,810
K
Katherine G. Meilleur
H 指数:23论文数:93被引数:1,426
J
Jason A. Watts
H 指数:14论文数:43被引数:2,041