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Pipis, M.
~ 100  results:
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1

The integrated stress response contributes to tRNA syntheta..:

Spaulding, E. L. ; Hines, T. J. ; Bais, P....
Science.  373 (2021)  6559 - p. 1156-1161 , 2021
Link: https://doi.org/10.1126/..
 
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2

Frequency of genetic variants in Charcot-Marie-Tooth diseas..:

Pipis, M. ; Rossor, A.M. ; Polke, J...
Neuromuscular Disorders.  28 (2018)  - p. S22 , 2018
Link: https://doi.org/10.1016/..
 
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3

Genetic investigation of inherited neuropathy in families f..:

Khan, A.M. ; Sultan, T. ; Kriouile, Y....
Neuromuscular Disorders.  28 (2018)  - p. S22 , 2018
Link: https://doi.org/10.1016/..
 
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4

Psychosis after thalamic infarcts: Is it just post-stroke d..:

Pipis, M. ; Dewan, B. ; Young, J.
Journal of the Neurological Sciences.  333 (2013)  - p. e220-e221 , 2013
Link: https://doi.org/10.1016/..
 
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5

Lower limb muscle MRI fat fraction is a responsive outcome ..:

Doherty, CM ; Morrow, JM ; Zuccarino, R...
https://discovery.ucl.ac.uk/id/eprint/10185259/1/Lower%20limb%20muscle%20MRI%20fat%20fraction%20is%20a%20responsive%20outcome%20measure%20in%20CMT%20X1%20%201B.pdf.  , 2024
Link: https://discovery.ucl.ac..
 
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6

Charcot-Marie-Tooth disease type 2CC due to NEFH variants c..:

Pipis, M ; Cortese, A ; Polke, JM...
https://discovery.ucl.ac.uk/id/eprint/10134423/1/jnnp-2021-327186.full.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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7

Natural history of Charcot-Marie-Tooth disease type 2A: a l..:

Pipis, M ; Feely, SME ; Polke, JM...
https://discovery.ucl.ac.uk/id/eprint/10119027/1/awaa323.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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8

Enrichment of SARM1 alleles encoding variants with constitu..:

Gilley, J ; Jackson, O ; Pipis, M...
https://discovery.ucl.ac.uk/id/eprint/10140359/1/Houlden_Enrichment%20of%20sarm1%20alleles%20encoding%20variants%20with%20constitutively%20hyperactive%20nadase%20in%20patients%20with%20als%20and%20other%20motor%20nerve%20disorders_AAM.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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9

Epidemiological and cohort study finds no association betwe..:

Keddie, S ; Pakpoor, J ; Mousele, C...
https://discovery.ucl.ac.uk/id/eprint/10118029/1/awaa433.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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10

Reply: Epidemiological and cohort study finds no associatio..:

Lunn, M ; Carr, A ; Keddie, S...
https://discovery.ucl.ac.uk/id/eprint/10120090/1/Submitted%20proof.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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11

Biallelic mutations in SORD cause a common and potentially ..:

Cortese, A ; Zhu, Y ; Rebelo, AP...
https://discovery.ucl.ac.uk/id/eprint/10098077/3/Cortese_A_SORD_NatureGenetics_revised_accepeted_21jan2019.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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12

Cerebellar ataxia, neuropathy, vestibular areflexia syndrom..:

Cortese, A ; Tozza, S ; Yau, WY...
https://discovery.ucl.ac.uk/id/eprint/10091785/1/awz418.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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13

Reliability of the Charcot-Marie-Tooth functional outcome m..:

Bray, P ; Cornett, KMD ; Estilow, T...
https://discovery.ucl.ac.uk/id/eprint/10112429/1/Pipis_Reliability%20of%20the%20CMTFOM%20Manuscript%20v%202.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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14

Author Correction: Biallelic mutations in SORD cause a comm..:

Cortese, A ; Zhu, Y ; Rebelo, AP...
https://discovery.ucl.ac.uk/id/eprint/10100097/3/Reilly_Biallelic%20Expansion%20of%20an%20intronic%20Repeat%20in%20the%20RFC1%20Gene%20is%20a%20common%20cause%20of%20Late-Onset%20Ataxia%20manuscript_cortese_etal_22jan2019_accepted.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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15

Advancing Charcot-Marie-Tooth disease diagnostics, through ..:

Pipis, M ; Houlden, H ; Reilly, MM
https://discovery.ucl.ac.uk/id/eprint/10116542/1/%5B18635490%20-%20Medizinische%20Genetik%5D%20Advancing%20Charcot-Marie-Tooth%20disease%20diagnostics,%20through%20the%20UK%20100,000%20Genomes%20Project.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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