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Author/Creator Polke, James M.

1. A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia. Issue 3 (29th May 2020)

Authors:
Zambon, Alberto A.; Pitt, Matthew; Laurà, Matilde; Polke, James M.; Reilly, Mary M.; Muntoni, Francesco
Journal:
Journal of the peripheral nervous system
Issue:
Volume 25:Issue 3(2020)
Page Start:
303
Record Type:
Journal Article
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2. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Issue 11 (28th September 2016)

Authors:
Rutten, Julie W.; Dauwerse, Hans G.; Gravesteijn, Gido; van Belzen, Martine J.; van der Grond, Jeroen; Polke, James M.; Bernal‐Quiros, Manuel; Lesnik Oberstein, Saskia A. J.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 3:Issue 11(2016)
Page Start:
844
Record Type:
Journal Article
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3. C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. (15th December 2020)

Authors:
Costa, Beatrice; Manzoni, Claudia; Bernal-Quiros, Manuel; Kia, Demis A.; Aguilar, Miquel; Alvarez, Ignacio; Alvarez, Victoria; Andreassen, Ole; Anfossi, Maria; Bagnoli, Silvia; Benussi, Luisa; Bernardi, Livia; Binetti, Giuliano; Blackburn, Daniel; Boada, Mercè; Borroni, Barbara; Bowns, Lucy; Bråt...
Journal:
Neurology
Issue:
Volume 95:Number 24(2020)
Page Start:
Record Type:
Journal Article
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4. Elevated 4R‐tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation. Issue 4 (24th December 2021)

Authors:
Setó‐Salvia, Núria; Esteras, Noemi; de Silva, Rohan; de Pablo‐Fernandez, Eduardo; Arber, Charles; Toomey, Christina E.; Polke, James M.; Morris, Huw R.; Rohrer, Jonathan D.; Abramov, Andrey Y.; Patani, Rickie; Wray, Selina; Warner, Thomas T.
Journal:
Journal of cellular and molecular medicine
Issue:
Volume 26:Issue 4(2022)
Page Start:
1327
Record Type:
Journal Article
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5. MFN2 deletion of exons 7 and 8: founder mutation in the UK population. Issue 2 (June 2015)

Authors:
Carr, Aisling S.; Polke, James M.; Wilson, Jacob; Pelayo‐Negro, Ana L.; Laura, Matilde; Nanji, Tina; Holt, James; Vaughan, Jennifer; Rankin, Julia; Sweeney, Mary G.; Blake, Julian; Houlden, Henry; Reilly, Mary M.
Journal:
Journal of the peripheral nervous system
Issue:
Volume 20:Issue 2(2015)
Page Start:
67
Record Type:
Journal Article
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