Journal of the peripheral nervous system : JPNS

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Publications

volume 29, number 2, 2024

Claudia Cutellè, Alberto De Lorenzo, Pietro Emiliano Doneddu, Maria Francesca Creta, Carlo Selmi, Giuseppe Liberatore, Andrea Giordano, Francesco Gentile, Gian Luca Erre, Eduardo Nobile-Orazio
Cytokines and chemokines in patients with chronic inflammatory demyelinating polyradiculoneuropathy and multifocal motor neuropathy: A systematic review. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Abigail L D Tadenev, Courtney L Hatton, Robert W Burgess
Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Antonino Uncini, Tiziana Cavallaro, Gian Maria Fabrizi, Fiore Manganelli, Jean-Michel Vallat
Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Zhongzheng Li, Sen Zeng, Yongzhi Xie, Xiaobo Li, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Mengli Wang, Qiaoyu Gong, Jun Liu, Pengfei Rong, Zhang Ruxu
Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Jeroen W Bos, Ewout J N Groen, Henny G Otten, Kevin Budding, Ruben P A van Eijk, Chantall Curial, Tineke Kardol-Hoefnagel, H Stephan Goedee, Leonard H van den Berg, W Ludo van der Pol
A 21-bp deletion in the complement regulator CD55 promotor region is associated with multifocal motor neuropathy and its disease course. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia De Jesus, Mary M Reilly, Andrea Cortese, Michael E Shy, Stephen W Scherer, David N Herrmann, Vera Fridman, Jonathan Baets, Mario Saporta, Reza Sadjadi, Tanya Stojkovic, Kristl G Claeys, Pooja Patel, Shawna Feely, Adriana P Rebelo, null null, Maike F Dohrn, Stephan Zuchner
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Jeroen W Bos, Ewout J N Groen, Henny G Otten, Kevin Budding, Ruben P A van Eijk, Chantall Curial, Tineke Kardol-Hoefnagel, H Stephan Goedee, Leonard H van den Berg, W Ludo van der Pol
A 21-bp deletion in the complement regulator CD55 promotor region is associated with multifocal motor neuropathy and its disease course. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Jack R Fennessy, Gabrielle A Donlevy, Marnee J McKay, Joshua Burns, Kayla M D Cornett, Manoj P Menezes
Development of a functional outcome measure for riboflavin transporter deficiency. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Hoda Gad, Einas Elgassim, Ahamed Lebbe, Ross S MacDonald, Areej Baraka, Ioannis N Petropoulos, Georgios Ponirakis, Nada O Ibrahim, Rayaz Ahmed Malik
Corneal confocal microscopy detects early nerve regeneration after pharmacological and surgical interventions: Systematic review and meta-analysis. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Peter Y K Van den Bergh, Pieter A van Doorn, Robert D M Hadden, null null
Reply to the Letter to the Editor "Do corticosteroids aggravate pure motor chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)?" by Kokubun N. et al. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia De Jesus, Mary M Reilly, Andrea Cortese, Michael E Shy, Stephen W Scherer, David N Herrmann, Vera Fridman, Jonathan Baets, Mario Saporta, Reza Sadjadi, Tanya Stojkovic, Kristl G Claeys, Pooja Patel, Shawna Feely, Adriana P Rebelo, null null, Maike F Dohrn, Stephan Zuchner
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Abigail L D Tadenev, Courtney L Hatton, Robert W Burgess
Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Lei Liu, Sen Zeng, Xiaobo Li, Yongzhi Xie, Ke Xu, Honglan Yang, Shunxiang Huang, Huadong Zhao, Zhang Ruxu
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Trajano Aguiar Pires Gonçalves, Camila Derminio Donadel, Rodrigo Siqueira Soares Frezatti, Pedro Manoel Marques Garibaldi, Rodrigo do Tocantins Calado, Oswaldo Wiliam Marques Junior, Pedro José Tomaselli
Monoclonal gammopathy-associated peripheral neuropathies: Uncovering pearls and challenges. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Karla Cárdenas-Soto, Xel-Ha Dominguez, Giovanni Cortes, Felix Tsai, Maria Del Mar Saniger, Paola Guraieb-Chahin, Benjamín Torres-Ocatvo, Christopher H Gibbons, Jeffery W Kelly, Roy Freeman, Alejandra González-Duarte
Cutaneous biomarkers of therapeutic efficacy in early treatment of hereditary ATTR amyloid polyneuropathy with tafamidis. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Etienne Fortanier, Emilien Delmont, Giovanni Corazza, Ludivine Kouton, Joelle Micallef, Shahram Attarian
Longitudinal follow-up and prognostic factors in nitrous oxide-induced neuropathy. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Zhongzheng Li, Sen Zeng, Yongzhi Xie, Xiaobo Li, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Mengli Wang, Qiaoyu Gong, Jun Liu, Pengfei Rong, Zhang Ruxu
Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Karla Cárdenas-Soto, Xel-Ha Dominguez, Giovanni Cortes, Felix Tsai, Maria Del Mar Saniger, Paola Guraieb-Chahin, Benjamín Torres-Ocatvo, Christopher H Gibbons, Jeffery W Kelly, Roy Freeman, Alejandra González-Duarte
Cutaneous biomarkers of therapeutic efficacy in early treatment of hereditary ATTR amyloid polyneuropathy with tafamidis. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Lei Liu, Sen Zeng, Xiaobo Li, Yongzhi Xie, Ke Xu, Honglan Yang, Shunxiang Huang, Huadong Zhao, Zhang Ruxu
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Karla Cárdenas-Soto, Xel-Ha Dominguez, Giovanni Cortes, Felix Tsai, Maria Del Mar Saniger, Paola Guraieb-Chahin, Benjamín Torres-Ocatvo, Christopher H Gibbons, Jeffery W Kelly, Roy Freeman, Alejandra González-Duarte
Cutaneous biomarkers of therapeutic efficacy in early treatment of hereditary ATTR amyloid polyneuropathy with tafamidis. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Claudia Cutellè, Alberto De Lorenzo, Pietro Emiliano Doneddu, Maria Francesca Creta, Carlo Selmi, Giuseppe Liberatore, Andrea Giordano, Francesco Gentile, Gian Luca Erre, Eduardo Nobile-Orazio
Cytokines and chemokines in patients with chronic inflammatory demyelinating polyradiculoneuropathy and multifocal motor neuropathy: A systematic review. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Jack R Fennessy, Gabrielle A Donlevy, Marnee J McKay, Joshua Burns, Kayla M D Cornett, Manoj P Menezes
Development of a functional outcome measure for riboflavin transporter deficiency. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Alessia Mammi, Alessandro Geroldi, Serena Patrone, Fabio Gotta, Paola Origone, Andrea Gaudio, Andrea La Barbera, Francesca Sanguineri, Clarissa Ponti, Michele Iacomino, Monica Traverso, Edoardo Ferlazzo, Angelo Schenone, Angelo Pascarella, Oreste Marsico, Paola Mandich, Emilia Bellone
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Norito Kokubun, Kei Funakoshi, Nobuhiro Yuki
Do corticosteroids aggravate pure motor chronic inflammatory demyelinating polyneuropathy? Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Antonino Uncini, Tiziana Cavallaro, Gian Maria Fabrizi, Fiore Manganelli, Jean-Michel Vallat
Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia De Jesus, Mary M Reilly, Andrea Cortese, Michael E Shy, Stephen W Scherer, David N Herrmann, Vera Fridman, Jonathan Baets, Mario Saporta, Reza Sadjadi, Tanya Stojkovic, Kristl G Claeys, Pooja Patel, Shawna Feely, Adriana P Rebelo, null null, Maike F Dohrn, Stephan Zuchner
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Claudia Cutellè, Alberto De Lorenzo, Pietro Emiliano Doneddu, Maria Francesca Creta, Carlo Selmi, Giuseppe Liberatore, Andrea Giordano, Francesco Gentile, Gian Luca Erre, Eduardo Nobile-Orazio
Cytokines and chemokines in patients with chronic inflammatory demyelinating polyradiculoneuropathy and multifocal motor neuropathy: A systematic review. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Alessia Mammi, Alessandro Geroldi, Serena Patrone, Fabio Gotta, Paola Origone, Andrea Gaudio, Andrea La Barbera, Francesca Sanguineri, Clarissa Ponti, Michele Iacomino, Monica Traverso, Edoardo Ferlazzo, Angelo Schenone, Angelo Pascarella, Oreste Marsico, Paola Mandich, Emilia Bellone
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Hoda Gad, Einas Elgassim, Ahamed Lebbe, Ross S MacDonald, Areej Baraka, Ioannis N Petropoulos, Georgios Ponirakis, Nada O Ibrahim, Rayaz Ahmed Malik
Corneal confocal microscopy detects early nerve regeneration after pharmacological and surgical interventions: Systematic review and meta-analysis. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Jeroen W Bos, Ewout J N Groen, Henny G Otten, Kevin Budding, Ruben P A van Eijk, Chantall Curial, Tineke Kardol-Hoefnagel, H Stephan Goedee, Leonard H van den Berg, W Ludo van der Pol
A 21-bp deletion in the complement regulator CD55 promotor region is associated with multifocal motor neuropathy and its disease course. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Hoda Gad, Einas Elgassim, Ahamed Lebbe, Ross S MacDonald, Areej Baraka, Ioannis N Petropoulos, Georgios Ponirakis, Nada O Ibrahim, Rayaz Ahmed Malik
Corneal confocal microscopy detects early nerve regeneration after pharmacological and surgical interventions: Systematic review and meta-analysis. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Abigail L D Tadenev, Courtney L Hatton, Robert W Burgess
Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Julian Theuriet, Sheila Marte, Arnaud Isapof, Alix de Becdelièvre, Marina Konyukh, Stephanie M Laureano-Figueroa, Philippe Latour, Isabelle Quadrio, Thierry Maisonobe, Anthony Antonellis, Kristl G Claeys
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Lei Liu, Sen Zeng, Xiaobo Li, Yongzhi Xie, Ke Xu, Honglan Yang, Shunxiang Huang, Huadong Zhao, Zhang Ruxu
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Norito Kokubun, Kei Funakoshi, Nobuhiro Yuki
Do corticosteroids aggravate pure motor chronic inflammatory demyelinating polyneuropathy? Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Etienne Fortanier, Emilien Delmont, Giovanni Corazza, Ludivine Kouton, Joelle Micallef, Shahram Attarian
Longitudinal follow-up and prognostic factors in nitrous oxide-induced neuropathy. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia De Jesus, Mary M Reilly, Andrea Cortese, Michael E Shy, Stephen W Scherer, David N Herrmann, Vera Fridman, Jonathan Baets, Mario Saporta, Reza Sadjadi, Tanya Stojkovic, Kristl G Claeys, Pooja Patel, Shawna Feely, Adriana P Rebelo, null null, Maike F Dohrn, Stephan Zuchner
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Peter Y K Van den Bergh, Pieter A van Doorn, Robert D M Hadden, null null
Reply to the Letter to the Editor "Do corticosteroids aggravate pure motor chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)?" by Kokubun N. et al. Journal of the peripheral nervous system : JPNS 29 (2) (2024)

volume 29, number 3, 2024

Eleonora Galosi, Carmelo Pirone, Fulvia Ceccarelli, Nicoletta Esposito, Pietro Falco, Martina Leopizzi, Valeria Di Maio, Lorenzo Tramontana, Gianfranco De Stefano, Giuseppe di Pietro, Giulia Di Stefano, Cristina Garufi, Caterina Leone, Francesco Natalucci, Valeria Orefice, Cristiano Alessandri, Francesca Romana Spinelli, Andrea Truini, Fabrizio Conti
Clinical, histologic, and immunologic signatures of Small Fiber Neuropathy in Systemic Lupus Erythematosus. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Vanessa Daccach, Pedro José Tomaselli, Juliana Secchin Algemiro, Patricia Toscano, André Cleriston José Dos Santos, Marco Andrey Cipriano Frade, Oswaldo Wiliam Marques Junior
Focal slowing of nerve conduction velocity in leprosy patients unveiled through multisegmented nerve analysis. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Jennifer Roggenbuck, Ana Morales, Colin A Ellis, Laynie Dratch, Molly Stetler, Christopher A Tan, Brianna Bucknor, Kathryn E Hatchell, Swaroop Aradhya, Edward D Esplin, Yi-Lee Ting, Stephen W Scherer
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Satoshi Kuwabara, Susumu Kusunoki, Motoi Kuwahara, Yoshihisa Yamano, Yoichiro Nishida, Hirokazu Ishida, Tomoyuki Kasuya, Erik Kupperman, Qun Lin, Glen Frick, Sonoko Misawa
Efficacy and safety of eculizumab in Guillain-Barré syndrome: A phase 3, multicenter, double-blind, randomized, placebo-controlled clinical trial. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Gabriela I Aparicio, Jorge E Quintero, Lauren Plum, Lingxiao Deng, Kristen Wanczyk, Miriam Henry, Evan Lynch, Michael Murphy, Greg A Gerhardt, Craig G van Horne, Paula V Monje
Identification of cellular and noncellular components of mature intact human peripheral nerve. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Jamie Burgess, Anne Marshall, Leandros Rapteas, J Hamill Kevin, Andrew Marshall, Rayaz Ahmed Malik, Bernhard Frank, Uazman Alam
Automated immunohistochemistry of intra-epidermal nerve fibres in skin biopsies: A proof-of-concept study. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Yongsheng Zheng, Chong Sun, Yanyin Zhao, Quanhua Meng, Jianian Hu, Kai Qiao, Jian Sun, Jianying Xi, Sushan Luo, Jiahong Lu, Chongbo Zhao, Jie Lin
Long-term and low-dose rituximab treatment for chronic inflammatory demyelinating polyneuropathy. Journal of the peripheral nervous system : JPNS 29 (3) (2024)
Amy R McDowell, Laura Zambreanu, Hamza A Salhab, Carolynne M Docherty, Philippa Bridgen, Pete Lally, Sachit Shah, Zimu Huo, Stephen J Wastling, Tarek Yousry, Jasper Morrow, John S Thornton, Michael P T Lunn
Initial findings using high-resolution magnetic resonance imaging for visualisation of the sural nerve and surrounding anatomy in healthy volunteers at 7 Tesla. Journal of the peripheral nervous system : JPNS 29 (3) (2024)