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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 4880, doi. 10.1093/brain/awad328
By:
- Lischka, Annette;
- Eggermann, Katja;
- Record, Christopher J;
- Dohrn, Maike F;
- Laššuthová, Petra;
- Kraft, Florian;
- Begemann, Matthias;
- Dey, Daniela;
- Eggermann, Thomas;
- Beijer, Danique;
- Šoukalová, Jana;
- Laura, Matilde;
- Rossor, Alexander M;
- Mazanec, Radim;
- Lent, Jonas Van;
- Tomaselli, Pedro J;
- Ungelenk, Martin;
- Debus, Karlien Y;
- Feely, Shawna M E;
- Gläser, Dieter
Publication type:
Article
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4336, doi. 10.1093/brain/awad187
By:
- Record, Christopher J;
- Skorupinska, Mariola;
- Laura, Matilde;
- Rossor, Alexander M;
- Pareyson, Davide;
- Pisciotta, Chiara;
- Feely, Shawna M E;
- Lloyd, Thomas E;
- Horvath, Rita;
- Sadjadi, Reza;
- Herrmann, David N;
- Li, Jun;
- Walk, David;
- Yum, Sabrina W;
- Lewis, Richard A;
- Day, John;
- Burns, Joshua;
- Finkel, Richard S;
- Saporta, Mario A;
- Ramchandren, Sindhu
Publication type:
Article
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4191, doi. 10.1093/brain/awad158
By:
- Rebelo, Adriana P;
- Tomaselli, Pedro J;
- Medina, Jessica;
- Wang, Ying;
- Dohrn, Maike F;
- Nyvltova, Eva;
- Danzi, Matt C;
- Garrett, Mark;
- Smith, Sean E;
- Pestronk, Alan;
- Li, Chengcheng;
- Ruiz, Ariel;
- Jacobs, Elizabeth;
- Feely, Shawna M E;
- França, Marcondes C;
- Gomes, Marcus V;
- Santos, Diogo F;
- Kumar, Surinder;
- Lombard, David B;
- Saporta, Mario
Publication type:
Article
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Published in:
2021
By:
- Rebelo, Adriana P;
- Cortese, Andrea;
- Abraham, Amit;
- Eshed-Eisenbach, Yael;
- Shner, Gal;
- Vainshtein, Anna;
- Buglo, Elena;
- Camarena, Vladimir;
- Gaidosh, Gabriel;
- Shiekhattar, Ramin;
- Abreu, Lisa;
- Courel, Steve;
- Burns, Dennis K;
- Bai, Yunhong;
- Bacon, Chelsea;
- Feely, Shawna M E;
- Castro, Diana;
- Peles, Elior;
- Reilly, Mary M;
- Shy, Michael E
Publication type:
journal article
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Published in:
2021
By:
- Rebelo, Adriana P;
- Cortese, Andrea;
- Abraham, Amit;
- Eshed-Eisenbach, Yael;
- Shner, Gal;
- Vainshtein, Anna;
- Buglo, Elena;
- Camarena, Vladimir;
- Gaidosh, Gabriel;
- Shiekhattar, Ramin;
- Abreu, Lisa;
- Courel, Steve;
- Burns, Dennis K;
- Bai, Yunhong;
- Bacon, Chelsea;
- Feely, Shawna M E;
- Castro, Diana;
- Peles, Elior;
- Reilly, Mary M;
- Shy, Michael E
Publication type:
journal article
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Published in:
2020
By:
- Pipis, Menelaos;
- Feely, Shawna M E;
- Polke, James M;
- Skorupinska, Mariola;
- Perez, Laura;
- Shy, Rosemary R;
- Laura, Matilde;
- Morrow, Jasper M;
- Moroni, Isabella;
- Pisciotta, Chiara;
- Taroni, Franco;
- Vujovic, Dragan;
- Lloyd, Thomas E;
- Acsadi, Gyula;
- Yum, Sabrina W;
- Lewis, Richard A;
- Finkel, Richard S;
- Herrmann, David N;
- Day, John W;
- Li, Jun
Publication type:
journal article
High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A.
Published in:
JAMA Neurology, 2013, v. 70, n. 8, p. 981, doi. 10.1001/jamaneurol.2013.3178
By:
- Lewis, Richard A.;
- McDermott, Michael P.;
- Herrmann, David N.;
- Hoke, Ahmet;
- Clawson, Lora L.;
- Siskind, Carly;
- Feely, Shawna M. E.;
- Miller, Lindsey J.;
- Barohn, Richard J.;
- Smith, Patricia;
- Luebbe, Elizabeth;
- Xingyao Wu;
- Shy, Michael E.
Publication type:
Article
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2.
Published in:
NeuroMolecular Medicine, 2020, v. 22, n. 1, p. 68, doi. 10.1007/s12017-019-08564-4
By:
- Deng, Sheng;
- Feely, Shawna M. E.;
- Shi, Yong;
- Zhai, Hong;
- Zhan, Luna;
- Siddique, Teepu;
- Deng, Han-Xiang;
- Shy, Michael E.
Publication type:
Article
PMP22 expression in dermal nerve myelin from patients with CMT1A.
Published in:
Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1734, doi. 10.1093/brain/awp113
By:
- Katona, Istvan;
- Wu, Xingyao;
- Feely, Shawna M. E.;
- Sottile, Stephanie;
- Siskind, Carly E.;
- Miller, Lindsey J.;
- Shy, Michael E.;
- Li, Jun
Publication type:
Article
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 607, doi. 10.1002/acn3.51979
By:
- Doherty, Carolynne M.;
- Morrow, Jasper M.;
- Zuccarino, Riccardo;
- Howard, Paige;
- Wastling, Stephen;
- Pipis, Menelaos;
- Zafeiropoulos, Nick;
- Stephens, Katherine J.;
- Grider, Tiffany;
- Feely, Shawna M. E.;
- Nopoulous, Peggy;
- Skorupinska, Mariola;
- Milev, Evelin;
- Nicolaisen, Emma;
- Dudzeic, Magdalena;
- McDowell, Amy;
- Dilek, Nuran;
- Muntoni, Francesco;
- Rossor, Alexander M.;
- Shah, Sachit
Publication type:
Article
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 69, doi. 10.1002/acn3.50965
By:
- Wang, Hongge;
- Davison, Matthew;
- Wang, Kathryn;
- Xia, Tai‐He;
- Kramer, Martin;
- Call, Katherine;
- Luo, Jun;
- Wu, Xingyao;
- Zuccarino, Riccardo;
- Bacon, Chelsea;
- Bai, Yunhong;
- Moran, John J.;
- Gutmann, Laurie;
- Feely, Shawna M. E.;
- Grider, Tiffany;
- Rossor, Alexander M.;
- Reilly, Mary M.;
- Svaren, John;
- Shy, Michael E.
Publication type:
Article
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 13, p. 2177, doi. 10.1093/hmg/ddad054
By:
- Meyer-Schuman, Rebecca;
- Marte, Sheila;
- Smith, Tyler J;
- Feely, Shawna M E;
- Kennerson, Marina;
- Nicholson, Garth;
- Shy, Mike E;
- Koutmou, Kristin S;
- Antonellis, Anthony
Publication type:
Article
Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure.
Published in:
Annals of Neurology, 2021, v. 89, n. 2, p. 369, doi. 10.1002/ana.25966
By:
- Ramchandren, Sindhu;
- Wu, Tong Tong;
- Finkel, Richard S.;
- Siskind, Carly E.;
- Feely, Shawna M. E.;
- Burns, Joshua;
- Reilly, Mary M.;
- Estilow, Timothy;
- Shy, Michael E.
Publication type:
Article
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
Published in:
Annals of Neurology, 2024, v. 96, n. 1, p. 170, doi. 10.1002/ana.26934
By:
- Doherty, Carolynne M.;
- Howard, Paige;
- O'Donnell, Luke F.;
- Zuccarino, Riccardo;
- Wastling, Stephen;
- Milev, Evelin;
- Banks, Tina;
- Shah, Sachit;
- Zafeiropoulos, Nick;
- Stephens, Katherine J.;
- Sarkozy, Anna;
- Grider, Tiffany;
- Feely, Shawna M. E.;
- Manzur, Adnan;
- Shy, Rosemary R.;
- Skorupinska, Mariola;
- Pipis, Menelaos;
- Nicolaisen, Emma;
- McDowell, Amy;
- Dilek, Nuran
Publication type:
Article
Validation of the parent‐proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life instrument for children aged 0–7 years.
Published in:
Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 382, doi. 10.1111/jns.12557
By:
- Wu, Tong Tong;
- Finkel, Richard S.;
- Siskind, Carly E.;
- Feely, Shawna M. E.;
- Burns, Joshua;
- Reilly, Mary M.;
- Muntoni, Francesco;
- Milev, Evelin;
- Estilow, Timothy;
- Shy, Michael E.;
- Ramchandren, Sindhu
Publication type:
Article
Loss of function MPZ mutation causes milder CMT1B neuropathy.
Published in:
Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 177, doi. 10.1111/jns.12452
By:
- Howard, Paige;
- Feely, Shawna M. E.;
- Grider, Tiffany;
- Bacha, Alexa;
- Scarlato, Marina;
- Fazio, Raffaella;
- Quattrini, Angelo;
- Shy, Michael E.;
- Previtali, Stefano C.
Publication type:
Article
Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score ( CMTNSv2) second version, using Rasch analysis.
Published in:
Journal of the Peripheral Nervous System, 2014, v. 19, n. 3, p. 192, doi. 10.1111/jns.12084
By:
- Sadjadi, Reza;
- Reilly, Mary M.;
- Shy, Michael E.;
- Pareyson, Davide;
- Laura, Matilde;
- Murphy, Sinead;
- Feely, Shawna M. E.;
- Grider, Tiffany;
- Bacon, Chelsea;
- Piscosquito, Giuseppe;
- Calabrese, Daniela;
- Burns, Ted M.
Publication type:
Article
Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.
Published in:
Journal of the Peripheral Nervous System, 2008, v. 13, n. 4, p. 299, doi. 10.1111/j.1529-8027.2008.00196.x
By:
- Sheth, Soham;
- Francies, Kevin;
- Siskind, Carly E.;
- Feely, Shawna M. E.;
- Lewis, Richard A.;
- Shy, Michael E.
Publication type:
Article

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