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1Academic Journal
المؤلفون: Meyer, Alayne P, Barnett, Cara L, Myers, Katherine, Siskind, Carly E, Moscarello, Tia, Logan, Rachel, Roggenbuck, Jennifer, Rich, Kelly A
مصطلحات موضوعية: Genotype-phenotype correlations
وصف الملف: text/html
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2Academic JournalValidation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure
المؤلفون: Wu, Tong Tong, Finkel, Richard S, Siskind, Carly E, Feely, Shawna ME, Burns, Joshua, Reilly, Mary M, Muntoni, Francesco, Estilow, Timothy, Shy, Michael E, Ramchandren, Sindhu, Childhood CMT Study Group, of the Inherited Neuropathy Consortium
المصدر: Journal of the Peripheral Nervous System , 28 (2) pp. 237-251. (2023)
مصطلحات موضوعية: Charcot-Marie-Tooth disease (CMT), Clinical Trial Endpoint, Outcome Measure Validation, Pediatric, Quality of life (QOL)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10164675/1/Validation%20of%20the%20Parent%20Proxy%20Pediatric%20Charcot%20Marie%20Tooth%20Disease%20Quality%20of%20Life.pdf; https://discovery.ucl.ac.uk/id/eprint/10164675/
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3Academic Journal
المؤلفون: Wu, Tong Tong, Finkel, Richard S, Siskind, Carly E, Feely, Shawna ME, Burns, Joshua, Reilly, Mary M, Muntoni, Francesco, Milev, Evelin, Estilow, OT Timothy, Shy, Michael E, Ramchandren, Sindhu, Childhood CMT Study Group of the Inherited Neuropathy, Consortium
المصدر: Journal of the Peripheral Nervous System (2023) (In press).
مصطلحات موضوعية: Childhood CMT Study Group of the Inherited Neuropathy Consortium
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/10170203/1/Validation%20of%20the%20Parent%20Proxy%20Version%20of%20the%20Pediatric%20Charcot%20Marie%20Tooth%20Disease.pdf; https://discovery.ucl.ac.uk/id/eprint/10170203/
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4Academic Journal
المؤلفون: 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, Lloyd, Thomas E, Day, John, Siskind, Carly E, Yum, Sabrina W, Sadjadi, Reza, Finkel, Richard S, Scherer, Steven S, Pareyson, Davide, Reilly, Mary M, Shy, Michael E, Inherited Neuropathies Consortium-Rare Diseases Clinical Researc
المصدر: Annals of Neurology , 93 (3) pp. 563-576. (2023)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10157293/1/Disease%20Progression%20in%20CMT%20related%20to%20MPZ%20Mutations.pdf; https://discovery.ucl.ac.uk/id/eprint/10157293/
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5Academic Journal
المؤلفون: Yiu, Eppie M., Bray, Paula, Baets, Jonathan, Baker, Steven K., Barisic, Nina, de Valle, Katy, Estilow, Timothy, Farrar, Michelle A., Finkel, Richard S., Haberlová, Jana, Kennedy, Rachel A., Moroni, Isabella, Nicholson, Garth A., Ramchandren, Sindhu, Reilly, Mary M., Rose, Kristy, Shy, Michael E., Siskind, Carly E., Yum, Sabrina W., Menezes, Manoj P., Ryan, Monique M., Burns, Joshua
المصدر: 0022-3050 ; Journal of neurology, neurosurgery and psychiatry
مصطلحات موضوعية: Chemistry, Biology, Human medicine
Relation: info:eu-repo/semantics/altIdentifier/isi/000753979600001
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6Academic Journal
المؤلفون: Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A, Sergeev, Yuri V, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J, Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H, Taylor, John, Downes, Susan, Krawczynski, Maciej R, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A, Moore, Anthony T, Duncan, Jacque L, Menendez, Beatriz, Hull, Sarah, Vincent, Andrea L, Siskind, Carly E, Traboulsi, Elias I, Blackstone, Craig, Sisk, Robert A, Miraldi Utz, Virginia, Webster, Andrew R, Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B
مصطلحات موضوعية: Animals, Humans, Mice, Retinal Diseases, Carboxylic Ester Hydrolases, Phospholipases, Acyltransferases, Phenotype, Mutation, Missense, Female, Male, Boucher-Neuhäuser syndrome, Gordon-Holmes syndrome, Laurence-Moon syndrome, Oliver-McFarlane syndrome, neurodegeneration, spastic paraplegia type 39, 32 Biomedical and Clinical Sciences, Peripheral Neuropathy, Genetics, Clinical Research, Neurosciences, Neurodegenerative, Rare Diseases, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Science & Technology, Life Sciences & Biomedicine
جغرافية الموضوع: England
وصف الملف: Print; application/pdf
Relation: Brain : a journal of neurology; (2024). Brain, 147(6), 2085-2097.; https://hdl.handle.net/2292/69926; 38735647 (pubmed); 7668204
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7Academic Journal
المؤلفون: Meyer, Alayne P., Barnett, Cara L., Myers, Katherine, Siskind, Carly E., Moscarello, Tia, Logan, Rachel, Roggenbuck, Jennifer, Rich, Kelly A.
المصدر: Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p356-362, 18p
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8
المؤلفون: Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A., Sergeev, Yuri, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J., Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H., Taylor, John, Downes, Susan, Krawczynski, Maciej, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A., Moore, Anthony T., Duncan, Jacque L., Menendez, Beatriz, Hull, Sarah, Vincent, Andrea, Siskind, Carly E., Traboulsi, Elias I., Blackstone, Craig, Sisk, Robert, Utz, Virginia, Webster, Andrew R., Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B
المصدر: bioRxiv
مصطلحات موضوعية: Article
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9Academic Journal
المؤلفون: 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., Lloyd, Thomas E., Day, John, Siskind, Carly E., Yum, Sabrina W., Sadjadi, Reza, Finkel, Richard S., Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
مصطلحات موضوعية: Psychiatry, Health Sciences
وصف الملف: application/pdf
Relation: 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.; Lloyd, Thomas E.; Day, John; Siskind, Carly E.; Yum, Sabrina W.; Sadjadi, Reza; Finkel, Richard S.; Scherer, Steven S.; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E. (2023). "Disease Progression in Charcot- Marie- Tooth Disease Related to MPZ Mutations: A Longitudinal Study." Annals of Neurology 93(3): 563-576.; https://hdl.handle.net/2027.42/175935; Annals of Neurology; Pipis M, Feely SME, Polke JM, et al. Natural history of Charcot-Marie-tooth disease type 2A: a large international multicentre study. Brain 2020; 143: 3589 – 3602.; Saporta AS, Sottile SL, Miller LJ. et al. Charcot-Marie-tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69: 22 – 33.; Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012; 83: 706 – 710.; Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4: 25 – 33.; Callegari I, Gemelli C, Geroldi A, et al. Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype. J Neurol 2019; 266: 2629 – 2645.; Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127: 371 – 384.; Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-tooth disease type 1A. Brain 2000; 123 (pt 7 ): 1516 – 1527.; Thomas PK, Marques W Jr, Davis MB, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997; 120 (pt 3 ): 465 – 478.; Sanmaneechai O, Feely S, Scherer SS, et al. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain 2015; 138: 3180 – 3192.; Bird TD, Kraft GH, Lipe HP, et al. Clinical and pathological phenotype of the original family with Charcot-Marie-tooth type 1B: a 20-year study. Ann Neurol 1997; 41: 463 – 469.; Brennan KM, Bai Y, Shy ME. Demyelinating CMT—what’s known, what’s new and what’s in store. Neurosci Lett 2015; 596: 14 – 26.; Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993; 5: 31 – 34.; Volpi VG, Touvier T, D’Antonio M. Endoplasmic reticulum protein quality control failure in myelin disorders. Front Mol Neurosci 2016; 9: 162.; Grandis M, Vigo T, Passalacqua M, et al. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 2008; 17: 1877 – 1889.; Xu W, Shy M, Kamholz J, et al. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol 2001; 155: 439 – 446.; Wrabetz L, D’Antonio M, Pennuto M, et al. Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice. J Neurosci 2006; 26: 2358 – 2368.; Fridman V, Sillau S, Acsadi G, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology 2020; 94: e884 – e896.; Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005; 64: 1209 – 1214.; Sadjadi R, Reilly MM, Shy ME, et al. Psychometrics evaluation of Charcot-Marie-tooth neuropathy score (CMTNSv2) second version, using Rasch analysis. J Peripher Nerv Syst 2014; 19: 192 – 196.; Piscosquito G, Reilly MM, Schenone A, et al. Responsiveness of clinical outcome measures in Charcot-Marie-tooth disease. Eur J Neurol 2015; 22: 1556 – 1563.; Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259 – 280.; Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405 – 424.; Bai Y, Ianokova E, Pu Q, et al. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol 2006; 63: 1787 – 1794.; Dacci P, Taroni F, Bella ED, et al. Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy. J Peripher Nerv Syst 2012; 17: 422 – 425.; Liu L, Li X, Zi X, et al. Two novel MPZ mutations in Chinese CMT patients. J Peripher Nerv Syst 2013; 18: 256 – 260.; De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-tooth phenotype. Brain 1999; 122 (2): 281 – 290.; Li J, Bai Y, Ianakova E, et al. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol 2006; 498: 252 – 265.; Mandarakas MR, Menezes MP, Rose KJ, et al. Development and validation of the Charcot-Marie-tooth disease infant scale. Brain 2018; 141: 3319 – 3330.; Burns J, Ouvrier R, Estilow T, et al. Validation of the Charcot-Marie-tooth disease pediatric scale as an outcome measure of disability. Ann Neurol 2012; 71: 642 – 652.; Laura M, Milani M, Morbin M, et al. Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain. J Neurol Neurosurg Psychiatry 2007; 78: 1263 – 1266.; Benedetti S, Previtali SC, Coviello S, et al. Analyzing histopathological features of rare Charcot-Marie-Tooth neuropathies to unravel their pathogenesis. Arch Neurol 2010; 67: 1498 – 1505.; Fratta P, Ornaghi F, Dati G, et al. A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. Hum Mol Genet 2019; 28: 124 – 132.; Eichinger K, Burns J, Cornett K, et al. The Charcot-Marie-Tooth functional outcome measure (CMT-FOM). Neurology 2018; 91: e1381 – e1384.; Graham RC, Hughes RA. A modified peripheral neuropathy scale: the overall neuropathy limitations scale. J Neurol Neurosurg Psychiatry 2006; 77: 973 – 976.; Morrow JM, Evans MRB, Grider T, et al. Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. Neurology 2018; 91: e1125 – e1129.; Morrow JM, Sinclair CD, Fischmann A, et al. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol 2016; 15: 65 – 77.; Ramchandren S, Wu TT, Finkel RS, et al. Development and validation of the pediatric Charcot-Marie-Tooth disease quality of life outcome measure. Ann Neurol 2021; 89: 369 – 379.
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10Academic Journal
المؤلفون: Orengo, James P., Khemani, Pravin, Day, John W., Li, Jun, Siskind, Carly E.
المساهمون: National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences
المصدر: Annals of Clinical and Translational Neurology ; volume 5, issue 2, page 222-225 ; ISSN 2328-9503 2328-9503
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11Academic Journal
المؤلفون: Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin, G, Cho, Megan, T, Siskind, Carly, E, Sampson, Jacinda, B, Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
المساهمون: Institute of Medical Biology Singapore Singapore, Institute of Molecular and Cell Biology Singapore, Singapore (IMCB / A*STAR), Thérapie génique, Génomique et Epigénomique (U 1169), Molecular Imaging Research Center Fontenay-aux-Roses (MIRCEN), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Team 4 NeoVasc - Region Team ERI 28 INSERM (NeoVasc), Cancer and Brain Genomics (CBG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), GeneDx Gaithersburg, MD, USA, Stanford University, The University of Jordan (JU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre Hospitalier Sud Francilien, Barcelona Institute of Science and Technology (BIST), Universitat Pompeu Fabra Barcelona (UPF), Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), National University of Singapore (NUS), Koç University, VU University Medical Center Amsterdam
المصدر: ISSN: 0002-9297.
مصطلحات موضوعية: LGI4, Arthrogryposis multiplex congenital, Whole-exome sequencing, Schwann cells, Hypomyelination, ADAM22, Secreted ligand, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/28318499; PUBMED: 28318499; PUBMEDCENTRAL: PMC5384038
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12Academic Journal
المؤلفون: Sanmaneechai, Oranee, Feely, Shawna, Scherer, Steven S., Herrmann, David N., Burns, Joshua, Muntoni, Francesco, Li, Jun, 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, Pareyson, Davide, Reilly, Mary M., Shy, Michael E., for the Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC)
مصطلحات موضوعية: Original Articles
وصف الملف: text/html
Relation: http://brain.oxfordjournals.org/cgi/content/short/138/11/3180; http://dx.doi.org/10.1093/brain/awv241
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13Academic Journal
المؤلفون: Sullivan, Jeremy M., Zimanyi, Christina M., Aisenberg, William, Bears, Breanne, Chen, Dong-Hui, Day, John W., Bird, Thomas D., Siskind, Carly E., Gaudet, Rachelle, Sumner, Charlotte J.
المصدر: Neurology Genetics ; volume 1, issue 4 ; ISSN 2376-7839 2376-7839
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14Academic Journal
المؤلفون: 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.
مصطلحات موضوعية: Psychiatry, Health Sciences
وصف الملف: application/pdf
Relation: 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. (2021). "Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure." Annals of Neurology 89(2): 369-379.; https://hdl.handle.net/2027.42/166254; https://dx.doi.org/10.7302/177; Annals of Neurology; Ware JE Jr, Sherbourne CD. The MOS 36‐item Short‐Form Health Survey (SF‐36): I. Conceptual framework and item selection. Med Care 1992; 30: 473 – 483.; Landgraf JM, Abetz L, Ware JE. The Child Health Questionnaire (CHQ) user’s manual. 2nd ed. Boston, MA: HealthAct, 1999.; Waters E, Salmon L, Wake M, et al. The Child Health Questionnaire in Australia: reliability, validity and population means. Aust N Z J Public Health 2000; 24: 207 – 210.; Rentz AM, Matza LS, Secnik K, et al. Psychometric validation of the Child Health Questionnaire (CHQ) in a sample of children and adolescents with attention‐deficit/hyperactivity disorder. Qual Life Res 2005; 14: 719 – 734.; Arnold A, McEntagart M, Younger DS. Psychosocial issues that face patients with Charcot‐Marie‐Tooth disease: the role of genetic counseling. J Genet Couns 2005; 14: 307 – 318.; Padua L, Aprile I, Cavallaro T, et al. Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. Neurol Sci 2006; 27: 417 – 423.; Padua L, Pareyson D, Aprile I, et al. Natural history of CMT1A including QoL: a 2‐year prospective study. Neuromuscul Disord 2008; 18: 199 – 203.; Redmond AC, Burns J, Ouvrier RA. Factors that influence health‐related quality of life in Australian adults with Charcot‐Marie‐Tooth disease. Neuromuscul Disord 2008; 18: 619 – 625.; Varni JW, Seid M, Kurtin PS. The PedsQL™ 4.0: reliability and validity of the Pediatric Quality of Life Inventory™ version 4.0 generic core scales in healthy and patient populations. Med Care 2001; 39: 800 – 812.; Varni JW, Limbers CA. The Pediatric Quality of Life Inventory: measuring pediatric health‐related quality of life from the perspective of children and their parents. Pediatr Clin North Am 2009; 56: 843 – 863.; Vogels T, Verrips GH, Verloove‐Vanhorick SP, et al. Measuring health‐related quality of life in children: the development of the TACQOL parent form. Qual Life Res 1998; 7: 457 – 465.; McHorney CA, Ware JE Jr, Raczek AE. The MOS 36‐item Short‐Form Health Survey (SF‐36): II. Psychometric and clinical tests of validity in measuring physical and mental health constructs. Med Care 1993; 31: 247 – 263.; Ware JE, Kosinski M, Keller SK. SF‐36® physical and mental health summary scales: a User’s manual. Boston, MA: The Health Institute, 1994.; Burns J, Ramchandren S, Ryan MM, et al. Determinants of reduced health‐related quality of life in pediatric inherited neuropathies. Neurology 2010; 75: 726 – 731.; Boentert M, Dziewas R, Heidbreder A, et al. Fatigue, reduced sleep quality and restless legs syndrome in Charcot‐Marie‐Tooth disease: a web‐based survey. J Neurol 2010; 257: 646 – 652.; Kaiser H. An index of factorial simplicity. Psychometrika 1974; 39: 31 – 36.; Johnson NE, Heatwole C, Creigh P, et al. The Charcot‐Marie‐Tooth Health Index: evaluation of a patient‐reported outcome. Ann Neurol 2018; 84: 225 – 233.; Eichinger K, Burns J, Cornett K, et al. The Charcot‐Marie‐Tooth functional outcome measure (CMT‐FOM). Neurology 2018; 91: e1381 – e1384.; Zhao HT, Damle S, Ikeda‐Lee K, et al. PMP22 antisense oligonucleotides reverse Charcot‐Marie‐Tooth disease type 1A features in rodent models. J Clin Invest 2018; 128: 359 – 368.; Kagiava A, Richter J, Tryfonos C, et al. Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X. Hum Mol Genet 2019; 28: 3528 – 3542.; Schiza N, Georgiou E, Kagiava A, et al. Gene replacement therapy in a model of Charcot‐Marie‐Tooth 4C neuropathy. Brain 2019; 142: 1227 – 1241.; Campbell A. Subjective measures of well‐being. Am Psychol 1976; 31: 117 – 124.; Skre H. Genetic and clinical aspects of Charcot‐Marie‐Tooth disease. Clin Genet 1974; 6: 98 – 118.; Passage E, Norreel JC, Noack‐Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot‐Marie‐Tooth disease. Nat Med 2004; 10: 396 – 401.; Khajavi M, Shiga K, Wiszniewski W, et al. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler‐J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 2007; 81: 438 – 453.; Meyer zu Horste G, Prukop T, Liebetanz D, et al. Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol 2007; 61: 61 – 72.; Burns J, Ouvrier RA, Yiu EM, et al. Ascorbic acid for Charcot‐Marie‐Tooth disease type 1A in children: a randomised, double‐blind, placebo‐controlled, safety and efficacy trial. Lancet Neurol 2009; 8: 537 – 544.; Pareyson D, Reilly MM, Schenone A, et al. Ascorbic acid in Charcot‐Marie‐Tooth disease type 1A (CMT‐TRIAAL and CMT TRAUK): a double‐blind randomized trial. Lancet Neurol 2011; 10: 320 – 328.; Lewis RA, McDermott MP, Herrmann DN, et al. High‐dosage ascorbic acid treatment in Charcot‐Marie‐Tooth disease type 1A: results of a randomized, double‐masked, controlled trial. JAMA Neurol 2013; 70: 981 – 987.; Fridman V, Bundy B, Reilly MM, et al. CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: a cross sectional analysis. J Neurol Neurosurg Psychiatry 2015; 86: 873 – 878.; Ramchandren S, Shy M, Feldman E, et al. Defining disability: development and validation of a mobility‐disability severity index (mDSI) in Charcot‐Marie‐Tooth disease. 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15Academic Journal
المؤلفون: Siskind, Carly E
المصدر: Clinical Chemistry ; volume 60, issue 2, page 304-305 ; ISSN 0009-9147 1530-8561
مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry
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16Academic Journal
المؤلفون: Murphy, Sinéad M., Ovens, Richard, Polke, James, Siskind, Carly E., Laurà, Matilde, Bull, Karen, Ramdharry, Gita, Houlden, Henry, Murphy, Raymond P.J., Shy, Michael E., Reilly, Mary M.
المصدر: Neuromuscular Disorders ; volume 22, issue 7, page 617-621 ; ISSN 0960-8966
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17Academic Journal
المؤلفون: Siskind, Carly E., Murphy, Sinéad M., Ovens, Richard, Polke, James, Reilly, Mary M., Shy, Michael E.
المصدر: Journal of the Peripheral Nervous System ; volume 16, issue 2, page 102-107 ; ISSN 1085-9489 1529-8027
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18Academic Journal
المؤلفون: Katona, Istvan, Wu, Xingyao, Feely, Shawna M. E., Sottile, Stephanie, Siskind, Carly E., Miller, Lindsey J., Shy, Michael E., Li, Jun
مصطلحات موضوعية: Original Articles
وصف الملف: text/html
Relation: http://brain.oxfordjournals.org/cgi/content/short/awp113v1; http://dx.doi.org/10.1093/brain/awp113
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19Academic Journal
المؤلفون: Fridman, Vera, Sillau, Stefan, Acsadi, Gyula, Bacon, Chelsea, Dooley, Kimberly, Burns, Joshua, Day, John, Feely, Shawna, Finkel, Richard S., Grider, Tiffany, Gutmann, Laurie, Herrmann, David N., Kirk, Callyn A., Knause, Sarrah A., Laurá, Matilde, Lewis, Richard A., Li, Jun, Lloyd, Thomas E., Moroni, Isabella, Muntoni, Francesco, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Giuseppe, Ramchandren, Sindhu, Saporta, Mario, Sadjadi, Reza, Shy, Rosemary R., Siskind, Carly E., Sumner, Charlotte J., Walk, David, Wilcox, Janel, Yum, Sabrina W., Züchner, Stephan, Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
المصدر: Neurology
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20Academic Journal
المؤلفون: Dondanville, Danielle S., Hanson-Kahn, Andrea K., Kavanaugh, Melinda S., Siskind, Carly E., Fanos, Joanna H.
المصدر: Institute on Disability
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