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1. Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Author

Bellofatto, Marta, Gentile, Luca, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Scarlato, Marina, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Villani, Flavio, Cavalca, Eleonora, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Didato, Giuseppe, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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3. Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients

Author

Benzoni, Chiara, Moscatelli, Marco, Farina, Laura, Magri, Stefania, Ciano, Claudia, Scaioli, Vidmer, Alverà, Sara, Cammarata, Gabriella, Bianchi-Marzoli, Stefania, Castellani, Massimo, Zito, Felicia Margherita, Marotta, Giorgio, Piacentini, Sylvie, Villacara, Alberto, Mantegazza, Renato, Gellera, Cinzia, Durães, João, Gouveia, Ana, Matos, Anabela, do Carmo Macário, Maria, Pareyson, Davide, Taroni, Franco, Di Bella, Daniela, and Salsano, Ettore

Published
2023
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5. Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

Author

Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D’Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A., Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, and Ferlini, Alessandra

Published
2023
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6. Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Author

Bellofatto, Marta, Gentile, Luca, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Scarlato, Marina, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Villani, Flavio, Cavalca, Eleonora, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Didato, Giuseppe, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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7. Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry

Author

Bellofatto, Marta, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Calabrese, Daniela, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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9. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Author

Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A. C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G. J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, and Evangelista, Teresinha

Published
2024
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10. Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy

Author

Bertini, Alessandro, primary, Gentile, Luca, additional, Cavallaro, Tiziana, additional, Tozza, Stefano, additional, Saveri, Paola, additional, Russo, Massimo, additional, Massucco, Sara, additional, Falzone, Yuri Matteo, additional, Bellone, Emilia, additional, Taioli, Federica, additional, Geroldi, Alessandro, additional, Occhipinti, Giuseppe, additional, Ferrarini, Moreno, additional, Cavalca, Eleonora, additional, Crivellari, Luca, additional, Mandich, Paola, additional, Balistreri, Francesca, additional, Magri, Stefania, additional, Taroni, Franco, additional, Previtali, Stefano Carlo, additional, Schenone, Angelo, additional, Grandis, Marina, additional, Manganelli, Fiore, additional, Fabrizi, Gian Maria, additional, Mazzeo, Anna, additional, Pareyson, Davide, additional, and Pisciotta, Chiara, additional

Published
2024
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15. Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis

Author

Salvalaggio, Alessandro, Coraci, Daniele, Obici, Laura, Cacciavillani, Mario, Luigetti, Marco, Mazzeo, Anna, Pastorelli, Francesca, Grandis, Marina, Cavallaro, Tiziana, Bisogni, Giulia, Lozza, Alessandro, Gemelli, Chiara, Gentile, Luca, Russo, Massimo, Ermani, Mario, Fabrizi, Gian Maria, Plasmati, Rosaria, De Napoli, Federica, Campagnolo, Marta, Castellani, Francesca, Salvi, Fabrizio, Fenu, Silvia, Devigili, Grazia, Pareyson, Davide, Gasparotti, Roberto, Rapezzi, Claudio, Martinoli, Carlo, Padua, Luca, and Briani, Chiara

Published
2022
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20. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

Author

Quartesan, Ilaria, primary, Vegezzi, Elisa, additional, Currò, Riccardo, additional, Heslegrave, Amanda, additional, Pisciotta, Chiara, additional, Iruzubieta, Pablo, additional, Salvalaggio, Alessandro, additional, Fernández‐Eulate, Gorka, additional, Dominik, Natalia, additional, Rugginini, Bianca, additional, Manini, Arianna, additional, Abati, Elena, additional, Facchini, Stefano, additional, Manso, Katarina, additional, Albajar, Ines, additional, Laban, Rhiannon, additional, Rossor, Alexander M., additional, Pichiecchio, Anna, additional, Cosentino, Giuseppe, additional, Saveri, Paola, additional, Salsano, Ettore, additional, Andreetta, Francesca, additional, Valente, Enza M., additional, Zetterberg, Henrik, additional, Giunti, Paola, additional, Stojkovic, Tanya, additional, Briani, Chiara, additional, López de Munain, Adolfo, additional, Pareyson, Davide, additional, Reilly, Mary M., additional, Houlden, Henry, additional, Tassorelli, Cristina, additional, and Cortese, Andrea, additional

Published
2023
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23. Virtual hospital and artificial intelligence: a first step towards the application of an innovative health system for the care of rare cerebrovascular diseases.

Author

Rifino, Nicola, Bersano, Anna, Padovani, Alessandro, Conti, Giancarlo Maria, Cavallini, Anna, Colombo, Luca, Priori, Alberto, Pianese, Raffaella, Gammone, Maria Rosaria, Erbetta, Alessandra, Ciceri, Elisa Francesca, Sattin, Davide, Varvello, Riccardo, Parati, Eugenio Agostino, Scelzo, Emma, Antozzi, Carlo, Pareyson, Davide, Silvani, Antonio, Finocchiaro, Gaetano, and Farago', Giuseppe

Subjects
ARTIFICIAL intelligence, MEDICAL care, TELEMEDICINE, HOSPITALS, INTERNET of things, CEREBROVASCULAR disease
Abstract

The development of virtual care options, including virtual hospital platforms, is rapidly changing the healthcare, mostly in the pandemic period, due to difficulties in in-person consultations. For this purpose, in 2020, a neurological Virtual Hospital (NOVHO) pilot study has been implemented, in order to experiment a multidisciplinary second opinion evaluation system for neurological diseases. Cerebrovascular diseases represent a preponderant part of neurological disorders. However, more than 30% of strokes remain of undetermined source, and rare CVD (rCVD) are often misdiagnosed. The lack of data on phenotype and clinical course of rCVD patients makes the diagnosis and the development of therapies challenging. Since the diagnosis and care of rCVDs require adequate expertise and instrumental tools, their management is mostly allocated to a few experienced hospitals, making difficult equity in access to care. Therefore, strategies for virtual consultations are increasingly applied with some advantage for patient management also in peripheral areas. Moreover, health data are becoming increasingly complex and require new technologies to be managed. The use of Artificial Intelligence is beginning to be applied to the healthcare system and together with the Internet of Things will enable the creation of virtual models with predictive abilities, bringing healthcare one step closer to personalized medicine. Herein, we will report on the preliminary results of the NOVHO project and present the methodology of a new project aimed at developing an innovative multidisciplinary and multicentre virtual care model, specific for rCVD (NOVHO-rCVD), which combines the virtual hospital approach and the deep-learning machine system. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Parent‐proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.

Author

Danti, Federica Rachele, Pagliano, Emanuela, Pareyson, Davide, Foscan, Maria, Marchi, Alessia, Feoli, Alessia, Bruschi, Fabio, Piscosquito, Giuseppe, Shy, Micheal E., Ramchandren, Sindhu, Moroni, Isabella, and Wu, Tong Tong

Subjects
RELIABILITY (Personality trait), RESEARCH methodology evaluation, PEDIATRICS, QUALITY of life, QUESTIONNAIRES, CHARCOT-Marie-Tooth disease, RESEARCH funding, DESCRIPTIVE statistics
Abstract

Background and Aims: The parent‐proxy reports can offer complementary informations or be the only source of Quality of Life measurement in young children. The aim of this study was to provide and validate the Italian version of the recently published parent‐proxy pCMT‐QOL for patients aged 8–18 years old, making it available for possible trials in Italian speaking children. Methods: The English‐language instrument was translated and adapted into the Italian language using standard procedures: translation, transcultural adaptation, and back‐translation. Parent‐proxy pCMT‐QOL was administered to parents of patients with a genetic diagnosis of CMT, aged 8–18 years old. All parents were retested 2 weeks later to assess reliability. Results: A total of 21 parents of CMT patients (18 CMT1A, 2 CMT2A, 1 CMT2K) were assessed during their children clinical appointments. The Italian‐pCMT‐QOL showed a high test–retest reliability; none of the parents had any difficulties with the completion of the questionnaire and no further revisions were necessary after completion. Interpretation: The Italian parent‐proxy pCMT‐QOL is a reliable, culturally adapted, and comparable version of the original English instrument. This questionnaire will improve the quality of the follow‐up and will make it possible to monitor more accurately the severity of the disease in Italian‐speaking families. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Author

Donlevy, Gabrielle A., primary, Cornett, Kayla M.D., additional, Garnett, Sarah P., additional, Shy, Rosemary, additional, Estilow, Timothy, additional, Yum, Sabrina W., additional, Anderson, Kimberly, additional, Pareyson, Davide, additional, Moroni, Isabella, additional, Muntoni, Francesco, additional, Reilly, Mary M., additional, Finkel, Richard S., additional, Herrmann, David N., additional, Eichinger, Katy J., additional, Shy, Michael E., additional, Burns, Joshua, additional, and Menezes, Manoj P., additional

Published
2023
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29. Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry

Author

Pisciotta, Chiara, Calabrese, Daniela, Santoro, Lucio, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Trapasso, Maria Claudia, Parazzini, Fabio, Vita, Giuseppe, and Pareyson, Davide

Published
2020
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30. Comparison of Efficacy Outcomes with Vutrisiran vs. Patisiran in hATTR Amyloidosis with Polyneuropathy: Post-hoc Analysis of the HELIOS-A Study (S14.003)

Author

Polydefkis, Michael, primary, Birklein, Frank, additional, Sekijima, Yoshiki, additional, Pareyson, Davide, additional, Cruz, Marcia Waddington, additional, Danese, David, additional, Capocelli, Kelley, additional, Merkel, Madeline, additional, Chen, Chongshu, additional, Vest, John, additional, and Adams, David, additional

Published
2023
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32. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Author

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, and Ramchandren, Sindhu

Subjects
CHARCOT-Marie-Tooth disease, MOTOR neuron diseases, MEDICAL genetics, PATIENT selection, MISSENSE mutation, AUDITORY neuropathy
Abstract

Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported GJB1 variants remain classified as variants of uncertain significance (VUS). In this large, international, multicentre study we prospectively collected demographic, clinical and genetic data on patients with CMT associated with GJB1 variants. Pathogenicity for each variant was defined using adapted American College of Medical Genetics criteria. Baseline and longitudinal analyses were conducted to study genotype-phenotype correlations, to calculate longitudinal change using the CMT Examination Score (CMTES), to compare males versus females, and pathogenic/likely pathogenic (P/LP) variants versus VUS. We present 387 patients from 295 families harbouring 154 variants in GJB1. Of these, 319 patients (82.4%) were deemed to have P/LP variants, 65 had VUS (16.8%) and three benign variants (0.8%; excluded from analysis); an increased proportion of patients with P/LP variants compared with using ClinVar's classification (74.6%). Male patients (166/319, 52.0%, P/LP only) were more severely affected at baseline. Baseline measures in patients with P/LP variants and VUS showed no significant differences, and regression analysis suggested the disease groups were near identical at baseline. Genotype-phenotype analysis suggested c.-17G>A produces the most severe phenotype of the five most common variants, and missense variants in the intracellular domain are less severe than other domains. Progression of disease was seen with increasing CMTES over time up to 8 years follow-up. Standard response mean (SRM), a measure of outcome responsiveness, peaked at 3 years with moderate responsiveness [change in CMTES (ΔCMTES) = 1.3 ± 2.6, P = 0.00016, SRM = 0.50]. Males and females progressed similarly up to 8 years, but baseline regression analysis suggested that over a longer period, females progress more slowly. Progression was most pronounced for mild phenotypes (CMTES = 0–7; 3-year ΔCMTES = 2.3 ± 2.5, P = 0.001, SRM = 0.90). Enhanced variant interpretation has yielded an increased proportion of GJB1 variants classified as P/LP and will aid future variant interpretation in this gene. Baseline and longitudinal analysis of this large cohort of CMTX1 patients describes the natural history of the disease including the rate of progression; CMTES showed moderate responsiveness for the whole group at 3 years and higher responsiveness for the mild group at 3, 4 and 5 years. These results have implications for patient selection for upcoming clinical trials. [ABSTRACT FROM AUTHOR]

Published
2023
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33. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Author

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, and Herrmann, David N

Subjects
NATURAL history, ACTION potentials, CHARCOT-Marie-Tooth disease, ULNAR nerve, SPINE abnormalities, POLYNEUROPATHIES
Abstract

Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal deformities, but its clinical characteristics and severity are quite variable. Clear relationships between pathogenic variants and the spectrum of disease manifestations are to date lacking. Gene replacement therapy has been shown to ameliorate the phenotype in a mouse model of CMT4C, emphasizing the need for natural history studies to inform clinical trial readiness. Data, including both genetic information and clinical characteristics, were compiled from the longitudinal, prospective dataset of the Inherited Neuropathy Consortium, a member of the Rare Diseases Clinical Research Network (INC-RDCRN). The Charcot Marie Tooth Neuropathy Score (CMTNS), Examination Score (CMTES) and the Rasch-weighted CMTES (CMTES-R) were used to describe symptoms, neurological examinations and neurophysiological characteristics. Standardized response means were calculated at yearly intervals and a mixed model for repeated measures was used to estimate the change in CMTES and CMTES-R over time. Fifty-six individuals (59% female), median age 27 years (range 2–67 years) with homozygous or compound heterozygous variants in SH3TC2 were identified, including 34 unique variants, 14 of which have not previously been published. Twenty-eight participants had longitudinal data available. While there was no significant difference in the CMTES in those with protein truncating versus non-protein truncating variants, there were significant differences in the mean ulnar nerve compound muscle action potential amplitude, the mean radial sensory nerve action potential amplitude, and in the prevalence of scoliosis, suggesting the possibility of a milder phenotype in individuals with one or two non-protein-truncating variants. Overall, the mean value of the CMTES was 13, reflecting moderate clinical severity. There was a high rate of scoliosis (81%), scoliosis surgery (36%), and walking difficulty (94%) among study participants. The CMTES and CMTES-R appeared moderately responsive to change over extended follow-up, demonstrating a standardized response mean of 0.81 standard deviation units or 0.71 standard deviation units, respectively, over 3 years. Our analysis represents the largest cross-sectional and only longitudinal study to date, of the clinical phenotype of both adults and children with CMT4C. With the promise of upcoming genetic treatments, these data will further define the natural history of the disease and inform study design in preparation for clinical trials. [ABSTRACT FROM AUTHOR]

Published
2023
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34. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

Author

Chelban, Viorica, Carecchio, Miryam, Rea, Gillian, Bowirrat, Abdalla, Kirmani, Salman, Magistrelli, Luca, Efthymiou, Stephanie, Schottlaender, Lucia, Vandrovcova, Jana, Salpietro, Vincenzo, Salsano, Ettore, Pareyson, Davide, Chiapparini, Luisa, Jan, Farida, Ibrahim, Shahnaz, Khan, Fatima, Qarnain, Zul, Groppa, Stanislav, Bajaj, Nin, Balint, Bettina, Bhatia, Kailash P., Lees, Andrew, Morrison, Patrick J., Wood, Nicholas W., Garavaglia, Barbara, and Houlden, Henry

Published
2020
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35. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Author

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., and Shy, Michael E.

Published
2020
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38. Leukodystrophies

Author

Salsano, Ettore, Pareyson, Davide, Sghirlanzoni, Angelo, editor, Lauria, Giuseppe, editor, and Chiapparini, Luisa, editor

Published
2015
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40. Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia

Author

Nanetti, Lorenzo, primary, Magri, Stefania, additional, Fichera, Mario, additional, Castaldo, Anna, additional, Nigri, Anna, additional, Pinardi, Chiara, additional, Mongelli, Alessia, additional, Sarro, Lidia, additional, Pareyson, Davide, additional, Grisoli, Marina, additional, Gellera, Cinzia, additional, Di Bella, Daniela, additional, Mariotti, Caterina, additional, and Taroni, Franco, additional

Published
2023
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41. Natural history of Charcot‐Marie‐Tooth disease during childhood

Author

Cornett, Kayla M.D., Menezes, Manoj P., Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Kate J., Herrmann, David N., Bray, Paula, Halaki, Mark, Shy, Michael E., Burns, Joshua, Cornett, Kayla MD, Menezes, Manoj P, Ouvrier, Robert, Acsadi, Gyula, Shy, Rosemary R, Calabrese, Daniela, Foscan, Maria, Sala, Roberta, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W, Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M, Finkel, Richard S, Eichinger, Kate J, Herrmann, David N, Bray, Paula, Rose, Kristy, Halaki, Mark, Pallant, Julie, Lek, Monkol, Shy, Michael E, and Burns, Joshua

Published
2017
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44. Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

Author

Cipriani, Silvia, primary, Guerrero‐Valero, Marta, additional, Tozza, Stefano, additional, Zhao, Edward, additional, Vollmer, Veith, additional, Beijer, Danique, additional, Danzi, Matt, additional, Rivellini, Cristina, additional, Lazarevic, Dejan, additional, Pipitone, Giovanni Battista, additional, Grosz, Bianca Rose, additional, Lamperti, Costanza, additional, Marzoli, Stefania Bianchi, additional, Carrera, Paola, additional, Devoto, Marcella, additional, Pisciotta, Chiara, additional, Pareyson, Davide, additional, Kennerson, Marina, additional, Previtali, Stefano C., additional, Zuchner, Stephan, additional, Scherer, Steven S., additional, Manganelli, Fiore, additional, Bähler, Martin, additional, and Bolino, Alessandra, additional

Published
2022
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45. Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey

Author

El-Hassar, Lynda, primary, Amara, Ahmed, additional, Sanson, Benoit, additional, Lacatus, Oana, additional, Amir Belhouchet, Ahmed, additional, Kroneman, Madelon, additional, Claeys, Kristl, additional, Plançon, Jean Philippe, additional, Rodolico, Carmelo, additional, Primiano, Guido, additional, Trojsi, Francesca, additional, Filosto, Massimiliano, additional, Mongini, Tiziana Enrica, additional, Bortolani, Sara, additional, Monforte, Mauro, additional, Carraro, Elena, additional, Maggi, Lorenzo, additional, Ricci, Federica, additional, Silani, Vincenzo, additional, Orsucci, Daniele, additional, Créange, Alain, additional, Péréon, Yann, additional, Stojkovic, Tanya, additional, van der Beek, Nadine Anna Maria Elisabeth, additional, Toscano, Antonio, additional, Pareyson, Davide, additional, Attarian, Shahram, additional, Van den Bergh, Peter Y.K., additional, Remiche, Gauthier, additional, Hoeijmakers, Janneke G.J., additional, Badrising, Umesh, additional, Voermans, Nicol C., additional, Kaindl, Angela M., additional, Schara-Schmidt, Ulrike, additional, Schoser, Benedikt, additional, Gazzerro, Elisabetta, additional, Haberlová, Jana, additional, Voháňka, Stanislav, additional, Pál, Endre, additional, Molnar, Maria Judit, additional, Leonardis, Lea, additional, Tournev, Ivailo L, additional, Osorio, Andrés Nascimento, additional, Olivé, Montse, additional, Muelas, Nuria, additional, Alonso-Perez, Jorge, additional, de Visser, Marianne, additional, Siciliano, Gabriele, additional, and Sacconi, Sabrina, additional

Published
2022
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48. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Author

Mannil, Manoj, Solari, Alessandra, Leha, Andreas, Pelayo-Negro, Ana L., Berciano, José, Schlotter-Weigel, Beate, Walter, Maggie C., Rautenstrauss, Bernd, Schnizer, Tuuli J., Schenone, Angelo, Seeman, Pavel, Kadian, Chandini, Schreiber, Olivia, Angarita, Natalia G., Fabrizi, Gian Maria, Gemignani, Franco, Padua, Luca, Santoro, Lucio, Quattrone, Aldo, Vita, Giuseppe, Calabrese, Daniela, Young, Peter, Laurà, Matilde, Haberlová, Jana, Mazanec, Radim, Paulus, Walter, Beissbarth, Tim, Shy, Michael E., Reilly, Mary M., Pareyson, Davide, and Sereda, Michael W.

Published
2014
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49. Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A

Author

Eichinger, Katy, primary, Sowden, Janet E., additional, Burns, Joshua, additional, McDermott, Michael P., additional, Krischer, Jeffrey, additional, Thornton, John, additional, Pareyson, Davide, additional, Scherer, Steven S., additional, Shy, Michael E., additional, Reilly, Mary M., additional, and Herrmann, David N., additional

Published
2022
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