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Author/Creator Laurà, Matilde

1. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs). Issue 1 (27th May 2019)

Authors:
Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M.; Leonard‐Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello‐Palot, Nathalie; Lévy, Nicolas; Sacconi, Sabrina; Guimarães‐Costa, Raquel; Attarian, Sharham; Latour, Philippe; Sol...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 1(2019)
Page Start:
55
Record Type:
Journal Article
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2. 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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3. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019)

Authors:
Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh...
Journal:
Parkinsonism & related disorders
Issue:
Volume 61(2019)
Page Start:
101
Record Type:
Journal Article
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4. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. Issue 7 (13th May 2017)

Authors:
Horga, Alejandro; Laurà, Matilde; Jaunmuktane, Zane; Jerath, Nivedita U; Gonzalez, Michael A; Polke, James M; Poh, Roy; Blake, Julian C; Liu, Yo-Tsen; Wiethoff, Sarah; Bettencourt, Conceição; Lunn, Michael PT; Manji, Hadi; Hanna, Michael G; Houlden, Henry; Brandner, Sebastian; Züchner, Stephan; S...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 88:Issue 7(2017)
Page Start:
575
Record Type:
Journal Article
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6. Rapid progression of late onset axonal Charcot–Marie–Tooth disease associated with a novel MPZ mutation in the extracellular domain. Issue 11 (16th October 2007)

Authors:
Laurà, Matilde; Milani, Micaela; Morbin, Michela; Moggio, Maurizio; Ripolone, Michela; Jann, Stefano; Scaioli, Vidmer; Taroni, Franco; Pareyson, Davide
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 78:Issue 11(2007)
Page Start:
1263
Record Type:
Journal Article
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