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Forouhan, Mitra
15  results:
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1

AR cooperates with SMAD4 to maintain skeletal muscle homeos..:

Forouhan, Mitra ; Lim, Wooi Fang ; Zanetti-Domingues, Laura C....
Acta Neuropathologica.  143 (2022)  6 - p. 713-731 , 2022
Link: https://doi.org/10.1007/..
 
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2

Gene therapy with AR isoform 2 rescues spinal and bulbar mu..:

Lim, Wooi F. ; Forouhan, Mitra ; Roberts, Thomas C....
Science Advances.  7 (2021)  34 - p. , 2021
Link: https://doi.org/10.1126/..
 
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3

Variants in ATP6V0A1 cause progressive myoclonus epilepsy a..:

Bott, Laura C ; Forouhan, Mitra ; Lieto, Maria...
Brain Communications.  3 (2021)  4 - p. , 2021
Link: https://doi.org/10.1093/..
 
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4

Carbamazepine reduces disease severity in a mouse model of ..:

Forouhan, Mitra ; Sonntag, Stephan ; Boot-Handford, Raymond P
Human Molecular Genetics.  27 (2018)  22 - p. 3840-3853 , 2018
Link: https://doi.org/10.1093/..
 
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5

Mutations inCCDC39andCCDC40are the Major Cause of Primary C..:

Antony, Dinu ; Becker-Heck, Anita ; Zariwala, Maimoona A....
Human Mutation.  34 (2013)  3 - p. 462-472 , 2013
Link: https://doi.org/10.1002/..
 
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6

Variants in ATP6V0A1 cause progressive myoclonus epilepsy a..:

Italian Undiagnosed Dis Network ; V-ATPase Consortium ; Bott, Laura C...
10.1093/braincomms/fcab245.  , 2022
Link: http://hdl.handle.net/10..
 
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7

AR cooperates with SMAD4 to maintain skeletal muscle homeos..:

Forouhan, Mitra ; Lim, Wooi Fang ; Zanetti-Domingues, Laura C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107400/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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8

AR cooperates with SMAD4 to maintain skeletal muscle homeos..:

Forouhan, Mitra ; Lim, Wooi Fang ; Zanetti-Domingues, Laura C...
https://discovery.ucl.ac.uk/id/eprint/10149078/1/Greensmith_AR%20cooperates%20with%20SMAD4%20to%20maintain%20skeletal%20muscle%20homeostasis_VoR.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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9

Gene therapy with AR isoform 2 rescues spinal and bulbar mu..:

Lim, Wooi F ; Forouhan, Mitra ; Roberts, Thomas C...
http://zaguan.unizar.es/record/108509.  , 2021
Link: http://zaguan.unizar.es/..
 
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10

Paradoxical roles of ATF6α and ATF6β in modulating disease ..:

Forouhan, Mitra ; Mori, K ; Boot-Handford, Raymond
Forouhan , M , Mori , K & Boot-Handford , R 2018 , ' Paradoxical roles of ATF6α and ATF6β in modulating disease severity caused by mutations in collagen X ' , Matrix Biology . https://doi.org/10.1016/j.matbio.2018.03.004.  , 2018
Link: https://research.manches..
 
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11

Carbamazepine reduces disease severity in a mouse model of ..:

Forouhan, Mitra ; Sonntag, Stephen ; Boot-Handford, Raymond
Forouhan , M , Sonntag , S & Boot-Handford , R 2018 , ' Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene. ' , Human Molecular Genetics , vol. 27 , no. 22 . https://doi.org/10.1093/hmg/ddy253.  , 2018
Link: https://research.manches..
 
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12

Carbamazepine reduces disease severity in a mouse model of ..:

Forouhan, Mitra ; Sonntag, Stephan ; Boot-Handford, Raymond P
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddy253.  , 2018
Link: https://hdl.handle.net/2..
 
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13

Increased intracellular proteolysis reduces disease severit..:

Mullan, Lorna ; Mularczyk, Ewa ; Kung, Louise...
Mullan , L , Mularczyk , E , Kung , L , Forouhan , M , Wragg , J , Goodacre , R , Bateman , J F , Swanton , E , Briggs , M & Boot-Handford , R 2017 , ' Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism ' , The Journal of clinical investigation , vol. 127 , no. 10 , pp. 3861-3865 . https://doi.org/10.1172/JCI93094.  , 2017
Link: https://research.manches..
 
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14

Increased intracellular proteolysis reduces disease severit..:

Mullan, Lorna A ; Mularczyk, Ewa J ; Kung, Louise H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617653/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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15

Mutations in CCDC39 and CCDC40 are the major cause of prima..:

Antony, Dinu ; Becker-Heck, Anita ; Zariwala, Maimoona A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3630464.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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