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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
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3826, doi. 10.1093/brain/awad095
By:
- Rehbein, Tyler;
- Wu, Tong Tong;
- Treidler, Simona;
- Pareyson, Davide;
- Lewis, Richard;
- Yum, Sabrina W;
- McCray, Brett A;
- Ramchandren, Sindhu;
- Burns, Joshua;
- Li, Jun;
- Finkel, Richard S;
- Scherer, Steven S;
- Zuchner, Stephan;
- Shy, Michael E;
- Reilly, Mary M;
- Herrmann, David N
Publication type:
Article
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Published in:
2015
By:
- Sanmaneechai, Oranee;
- Feely, Shawna;
- Scherer, Steven S.;
- Herrmann, David N.;
- Burns, Joshua;
- Muntoni, Francesco;
- Jun Li;
- Siskind, Carly E.;
- Day, John W.;
- Laura, Matilde;
- Sumner, Charlotte J.;
- Lloyd, Thomas E.;
- Ramchandren, Sindhu;
- Shy, Rosemary R.;
- Grider, Tiffany;
- Bacon, Chelsea;
- Finkel, Richard S.;
- Yum, Sabrina W.;
- Moroni, Isabella;
- Piscosquito, Giuseppe
Publication type:
journal article
Neurogenic Bladder Due to Hypoxic-Ischemic Demyelination.
Published in:
Journal of Neuroimaging, 2008, v. 18, n. 2, p. 198, doi. 10.1111/j.1552-6569.2007.00167.x
By:
- Ramchandren, Sindhu;
- Liebeskind, David S.
Publication type:
Article
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).
Published in:
2011
By:
- Burns, Joshua;
- Finkel, Richard;
- Estilow, Tim;
- Hiscock, Andy;
- Laura, Matilde;
- Swingle, Polly;
- Patzko, Agnes;
- Glanzman, Allan;
- Acsadi, Gyula;
- Muntoni, Francesco;
- Reilly, Mary;
- Pareyson, Davide;
- Moroni, Isabella;
- Pagliano, Emanuela;
- Ramchandren, Sindhu;
- Eichinger, Kate;
- Ryan, Monique;
- Ouvrier, Robert;
- Shy, Michael;
- Shy, Rosemary
Publication type:
Abstract
An Update on Monoclonal Gammopathy and Neuropathy.
Published in:
Current Neurology & Neuroscience Reports, 2012, v. 12, n. 1, p. 102, doi. 10.1007/s11910-011-0237-4
By:
- Ramchandren, Sindhu;
- Lewis, Richard
Publication type:
Article
Anterior tibialis cmap amplitude correlations with impairment in CMT1A.
Published in:
Muscle & Nerve, 2013, v. 47, n. 4, p. 493, doi. 10.1002/mus.23614
By:
- Komyathy, Kelsey;
- Neal, Stephanie;
- Feely, Shawna;
- Miller, Lindsey J.;
- Lewis, Richard A.;
- Trigge, George;
- Siskind, Carly E.;
- Shy, Michael E.;
- Ramchandren, Sindhu
Publication type:
Article
Hypoglossal nerve conduction findings in obstructive sleep apnea.
Published in:
Muscle & Nerve, 2010, v. 42, n. 2, p. 257, doi. 10.1002/mus.21690
By:
- Ramchandren, Sindhu;
- Gruis, Kirsten L.;
- Chervin, Ronald D.;
- Lisabeth, Lynda D.;
- Concannon, Maryann;
- Wolfe, James;
- Albers, James W.;
- Brown, Devin L.
Publication type:
Article
Headache in a patient with Klinefelter’s syndrome and hyperostosis frontalis interna.
Published in:
Journal of Headache & Pain, 2007, v. 8, n. 6, p. 342, doi. 10.1007/s10194-007-0426-3
By:
- Ramchandren, Sindhu;
- Liebeskind, David
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
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
Poster 74: Predicting Ambulatory Aid Need with Disease Progression in Pediatric Genetic Neuropathy.
Published in:
PM & R: Journal of Injury, Function & Rehabilitation, 2017, v. 9, n. 91, p. S161, doi. 10.1016/j.pmrj.2017.08.030
By:
- Moore, Jacob J.;
- Ramchandren, Sindhu;
- Hornyak, Joseph E.
Publication type:
Article
Poster 74: Predicting Ambulatory Aid Need with Disease Progression in Pediatric Genetic Neuropathy.
Published in:
PM & R: Journal of Injury, Function & Rehabilitation, 2017, v. 9, p. S161, doi. 10.1016/j.pmrj.2017.08.030
By:
- Moore, Jacob J.;
- Ramchandren, Sindhu;
- Hornyak, Joseph E.
Publication type:
Article
The relationship between restless legs syndrome and neuropathy.
Published in:
Movement Disorders, 2007, v. 22, n. 4, p. 588, doi. 10.1002/mds.21305
By:
- Ramchandren, Sindhu;
- Chervin, Ronald D.
Publication type:
Article
Parent‐proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.
Published in:
Journal of the Peripheral Nervous System, 2024, v. 29, n. 1, p. 107, doi. 10.1111/jns.12615
By:
- Danti, Federica Rachele;
- Pagliano, Emanuela;
- Pareyson, Davide;
- Foscan, Maria;
- Marchi, Alessia;
- Feoli, Alessia;
- Bruschi, Fabio;
- Piscosquito, Giuseppe;
- Shy, Micheal E.;
- Ramchandren, Sindhu;
- Moroni, Isabella;
- Wu, Tong Tong
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
Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure.
Published in:
Journal of the Peripheral Nervous System, 2023, v. 28, n. 2, p. 237, doi. 10.1111/jns.12538
By:
- Wu, Tong Tong;
- Finkel, Richard S.;
- Siskind, Carly E.;
- Feely, Shawna M.E.;
- Burns, Joshua;
- Reilly, Mary M.;
- Muntoni, Francesco;
- Estilow, Timothy;
- Shy, Michael E.;
- Ramchandren, Sindhu
Publication type:
Article
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
Published in:
Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 127, doi. 10.1111/jns.12494
By:
- Moroni, Isabella;
- Danti, Federica Rachele;
- Pareyson, Davide;
- Pagliano, Emanuela;
- Piscosquito, Giuseppe;
- Foscan, Maria;
- Marchi, Alessia;
- Ardissone, Anna;
- Genitrini, Silvia;
- Wu, Tong Tong;
- Shy, Michael E;
- Ramchandren, Sindhu
Publication type:
Article
Peripheral neuropathy in survivors of childhood acute lymphoblastic leukemia.
Published in:
Journal of the Peripheral Nervous System, 2009, v. 14, n. 3, p. 184, doi. 10.1111/j.1529-8027.2009.00230.x
By:
- Ramchandren, Sindhu;
- Leonard, Marcia;
- Mody, Rajen J.;
- Donohue, Janet E.;
- Moyer, Judith;
- Hutchinson, Raymond;
- Gurney, James G.
Publication type:
Article

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