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A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01043-z
By:
- Edgar, James R.;
- Ho, Anita K.;
- Laurá, Matilde;
- Horvath, Rita;
- Reilly, Mary M.;
- Luzio, J. Paul;
- Roberts, Rhys C.
Publication type:
Article
Home‐based multi‐sensory and proximal strengthening program to improve balance in Charcot–Marie–Tooth disease Type 1A: A proof of concept study.
Published in:
Muscle & Nerve, 2024, v. 69, n. 3, p. 354, doi. 10.1002/mus.28032
By:
- Dudziec, Magdalena M.;
- Lee, Laurence E.;
- Massey, Charlotte;
- Tropman, David;
- Skorupinska, Mariola;
- Laurá, Matilde;
- Reilly, Mary M.;
- Ramdharry, Gita M.
Publication type:
Article
Balance impairment in pediatric charcot-marie-tooth disease.
Published in:
2019
By:
- Estilow, Timothy;
- Glanzman, Allan M.;
- Burns, Joshua;
- Harrington, Ann;
- Cornett, Kayla;
- Menezes, Manoj P.;
- Shy, Rosemary;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Laurá, Matilde;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Eichinger, Kate J.;
- Herrmann, David N.;
- Troutman, Gregory;
- Bray, Paula;
- Halaki, Mark
Publication type:
journal article
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.
Published in:
2018
By:
- Laurá, Matilde;
- Singh, Dishan;
- Ramdharry, Gita;
- Morrow, Jasper;
- Skorupinska, Mariola;
- Pareyson, Davide;
- Burns, Joshua;
- Lewis, Richard A.;
- Scherer, Steven S.;
- Herrmann, David N.;
- Cullen, Nicholas;
- Bradish, Christopher;
- Gaiani, Luca;
- Martinelli, Nicolò;
- Gibbons, Paul;
- Pfeffer, Glenn;
- Phisitkul, Phinit;
- Wapner, Keith;
- Sanders, James;
- Flemister, Sam
Publication type:
journal article
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
Published in:
JAMA Neurology, 2016, v. 73, n. 6, p. 645, doi. 10.1001/jamaneurol.2016.0171
By:
- Cornett, Kayla M. D.;
- Menezes, Manoj P.;
- Bray, Paula;
- Halaki, Mark;
- Shy, Rosemary R.;
- Yum, Sabrina W.;
- Estilow, Timothy;
- Moroni, Isabella;
- Foscan, Maria;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Laurá, Matilde;
- Bhandari, Trupti;
- Muntoni, Francesco;
- Reilly, Mary M.;
- Finkel, Richard S.;
- Sowden, Janet;
- Eichinger, Katy J.;
- Herrmann, David N.;
- Shy, Michael E.
Publication type:
Article
Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity.
Published in:
NeuroMolecular Medicine, 2015, v. 17, n. 1, p. 47, doi. 10.1007/s12017-014-8339-1
By:
- Ernst, Daniela;
- Murphy, Sinéad;
- Sathiyanadan, Karthik;
- Wei, Yu;
- Othman, Alaa;
- Laurá, Matilde;
- Liu, Yo-Tsen;
- Penno, Anke;
- Blake, Julian;
- Donaghy, Michael;
- Houlden, Henry;
- Reilly, Mary;
- Hornemann, Thorsten
Publication type:
Article
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Published in:
Annals of Neurology, 2023, v. 93, n. 3, p. 563, doi. 10.1002/ana.26518
By:
- Fridman, Vera;
- Sillau, Stefan;
- Bockhorst, Jacob;
- Smith, Kaitlin;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Pisciotta, Chiara;
- Piscosquito, Guiseppe;
- Laurá, Matilde;
- Muntoni, Francesco;
- Bacon, Chelsea;
- Feely, Shawna;
- Grider, Tiffany;
- Gutmann, Laurie;
- Shy, Rosemary;
- Wilcox, Janel;
- Herrmann, David N.;
- Li, Jun;
- Ramchandren, Sindhu;
- Sumner, Charlotte J.
Publication type:
Article
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.
Published in:
Annals of Neurology, 2012, v. 71, n. 5, p. 642, doi. 10.1002/ana.23572
By:
- Burns, Joshua;
- Ouvrier, Robert;
- Estilow, Tim;
- Shy, Rosemary;
- Laurá, Matilde;
- Pallant, Julie F.;
- Lek, Monkol;
- Muntoni, Francesco;
- Reilly, Mary M.;
- Pareyson, Davide;
- Acsadi, Gyula;
- Shy, Michael E.;
- Finkel, Richard S.
Publication type:
Article
Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders.
Published in:
Obstetric Medicine (1753-495X), 2023, v. 16, n. 2, p. 83, doi. 10.1177/1753495X221107328
By:
- Skorupinska, Mariola;
- Ramdharry, Gita;
- Byrne, Bridgette;
- Laurá, Matilde;
- Reilly, Mary M
Publication type:
Article
Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A.
Published in:
European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16199
By:
- Tomaselli, Pedro José;
- Blake, Julian;
- Polke, James M.;
- do Nascimento, Osvaldo José Moreira;
- Reilly, Mary M.;
- Marques Júnior, Wilson;
- Laurá, Matilde
Publication type:
Article
A prospective study on surgical management of foot deformities in Charcot Marie tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 187, doi. 10.1111/jns.12437
By:
- Ramdharry, Gita;
- Singh, Dishan;
- Gray, Julia;
- Kozyra, Damian;
- Skorupinska, Mariola;
- Reilly, Mary M.;
- Laurá, Matilde
Publication type:
Article
A pilot study of proximal strength training in Charcot-Marie-Tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2014, v. 19, n. 4, p. 328, doi. 10.1111/jns.12100
By:
- Ramdharry, Gita M.;
- Pollard, Alexander;
- Anderson, Cheryl;
- Laurá, Matilde;
- Murphy, Sinead M.;
- Dudziec, Magdalena;
- Dewar, Elizabeth L.;
- Hutton, Elspeth;
- Grant, Robert;
- Reilly, Mary M.
Publication type:
Article
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2013, v. 18, n. 2, p. 177, doi. 10.1111/jns5.12024
By:
- Burns, Joshua;
- Menezes, Manoj;
- Finkel, Richard S.;
- Estilow, Tim;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Laurá, Matilde;
- Muntoni, Francesco;
- Herrmann, David N.;
- Eichinger, Kate;
- Shy, Rosemary;
- Pareyson, Davide;
- Reilly, Mary M.;
- Shy, Michael E.
Publication type:
Article
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
Published in:
Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x
By:
- Voermans, Nicol C.;
- Kleefstra, Tjitske;
- Gabreëls-Festen, Anneke A.;
- Faas, Brigitte H. W.;
- Kamsteeg, Erik-Jan;
- Houlden, Henry;
- Laurá, Matilde;
- Polke, James M.;
- Pandraud, Amelie;
- van Ruissen, Fred;
- van Engelen, Baziel G.;
- Reilly, Mary M.
Publication type:
Article
c-Jun expression in human neuropathies: a pilot study.
Published in:
Journal of the Peripheral Nervous System, 2011, v. 16, n. 4, p. 295, doi. 10.1111/j.1529-8027.2011.00360.x
By:
- Hutton, Elspeth J.;
- Carty, Lucy;
- Laurá, Matilde;
- Houlden, Henry;
- Lunn, Michael P. T.;
- Brandner, Sebastian;
- Mirsky, Rhona;
- Jessen, Kristjan;
- Reilly, Mary M.
Publication type:
Article
Charcot-Marie-Tooth disease.
Published in:
Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 1, doi. 10.1111/j.1529-8027.2011.00324.x
By:
- Reilly, Mary M.;
- Murphy, Sinéad M.;
- Laurá, Matilde
Publication type:
Article

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