Journal of neuromuscular diseases

Keyphrases

Publications

volume 11, number 4, 2024

Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice. Journal of neuromuscular diseases 11 (4) (2024)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND). Journal of neuromuscular diseases 11 (4) (2024)
Catarina Olimpio, Ida Paramonov, Leslie Matalonga, Steven Laurie, Katherine Schon, Kiran Polavarapu, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. Journal of neuromuscular diseases 11 (4) (2024)
Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene. Journal of neuromuscular diseases 11 (4) (2024)
Catarina Olimpio, Ida Paramonov, Leslie Matalonga, Steven Laurie, Katherine Schon, Kiran Polavarapu, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. Journal of neuromuscular diseases 11 (4) (2024)
Elisabetta Pupillo, Ammar Al-Chalabi, Serena Sassi, Emilio Arippol, Lorenzo Tinti, Eugenio Vitelli, Massimiliano Copetti, Maurizio A Leone, Elisa Bianchi
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review. Journal of neuromuscular diseases 11 (4) (2024)
Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene. Journal of neuromuscular diseases 11 (4) (2024)
Valérie Decostre, Marie De Antonio, Laurent Servais, Jean-Yves Hogrel
Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials. Journal of neuromuscular diseases 11 (4) (2024)
Payam Mohassel, Meher Abdullah, Florian S Eichler, Teresa M Dunn
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders. Journal of neuromuscular diseases 11 (4) (2024)
Valérie Decostre, Marie De Antonio, Laurent Servais, Jean-Yves Hogrel
Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials. Journal of neuromuscular diseases 11 (4) (2024)
Tiziana Lencioni, Virginia Bandini, Cristina Schenone, Maria Lagostina, Alessia Aiello, Angelo Schenone, Maurizio Ferrarin, Carlo Trompetto, Laura Mori, null null
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT. Journal of neuromuscular diseases 11 (4) (2024)
Charlotte Colot, Sarah Benmechri, Elke Everaert, Sarah Muys, Linde Van Himme, Valentine Tahon, Maurine Salmon, Dorine Van Dyck, Elke De Vos, Nicolas Deconinck
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach. Journal of neuromuscular diseases 11 (4) (2024)
Ulla Werlauff, Charlotte Handberg, Bente Kristensen, Sarah Glerup, Antoniett Vebel Pharao, Jeanette Strøm, Bente Thoft Jensen
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract Symptoms. Journal of neuromuscular diseases 11 (4) (2024)
Catarina Olimpio, Ida Paramonov, Leslie Matalonga, Steven Laurie, Katherine Schon, Kiran Polavarapu, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. Journal of neuromuscular diseases 11 (4) (2024)
Claudio Semplicini, Michela Agostini, Cinzia Andrigo, Stefano Masiero, Francesco Piccione, Gianni Sorarù
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment. Journal of neuromuscular diseases 11 (4) (2024)
Payam Mohassel, Meher Abdullah, Florian S Eichler, Teresa M Dunn
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders. Journal of neuromuscular diseases 11 (4) (2024)
Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy. Journal of neuromuscular diseases 11 (4) (2024)
Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy. Journal of neuromuscular diseases 11 (4) (2024)
Charlotte Colot, Sarah Benmechri, Elke Everaert, Sarah Muys, Linde Van Himme, Valentine Tahon, Maurine Salmon, Dorine Van Dyck, Elke De Vos, Nicolas Deconinck
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach. Journal of neuromuscular diseases 11 (4) (2024)
Claudio Semplicini, Michela Agostini, Cinzia Andrigo, Stefano Masiero, Francesco Piccione, Gianni Sorarù
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment. Journal of neuromuscular diseases 11 (4) (2024)
Charlotte Colot, Sarah Benmechri, Elke Everaert, Sarah Muys, Linde Van Himme, Valentine Tahon, Maurine Salmon, Dorine Van Dyck, Elke De Vos, Nicolas Deconinck
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach. Journal of neuromuscular diseases 11 (4) (2024)
Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene. Journal of neuromuscular diseases 11 (4) (2024)
Corentin Meyer, Norma Beatriz Romero, Teresinha Evangelista, Brunot Cadot, Jocelyn Laporte, Anne Jeannin-Girardon, Pierre Collet, Ali Ayadi, Kirsley Chennen, Olivier Poch
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa. Journal of neuromuscular diseases 11 (4) (2024)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND). Journal of neuromuscular diseases 11 (4) (2024)
Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy. Journal of neuromuscular diseases 11 (4) (2024)
Corentin Meyer, Norma Beatriz Romero, Teresinha Evangelista, Brunot Cadot, Jocelyn Laporte, Anne Jeannin-Girardon, Pierre Collet, Ali Ayadi, Kirsley Chennen, Olivier Poch
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa. Journal of neuromuscular diseases 11 (4) (2024)
Corentin Meyer, Norma Beatriz Romero, Teresinha Evangelista, Brunot Cadot, Jocelyn Laporte, Anne Jeannin-Girardon, Pierre Collet, Ali Ayadi, Kirsley Chennen, Olivier Poch
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa. Journal of neuromuscular diseases 11 (4) (2024)
Charlotte Colot, Sarah Benmechri, Elke Everaert, Sarah Muys, Linde Van Himme, Valentine Tahon, Maurine Salmon, Dorine Van Dyck, Elke De Vos, Nicolas Deconinck
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach. Journal of neuromuscular diseases 11 (4) (2024)
Valérie Decostre, Marie De Antonio, Laurent Servais, Jean-Yves Hogrel
Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials. Journal of neuromuscular diseases 11 (4) (2024)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice. Journal of neuromuscular diseases 11 (4) (2024)
Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy. Journal of neuromuscular diseases 11 (4) (2024)
Payam Mohassel, Meher Abdullah, Florian S Eichler, Teresa M Dunn
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders. Journal of neuromuscular diseases 11 (4) (2024)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND). Journal of neuromuscular diseases 11 (4) (2024)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND). Journal of neuromuscular diseases 11 (4) (2024)
Michela Bisciglia, Hazim Kadhim, Sophie Lecomte, Isabelle Vandernoot, Laurence Desmyter, Gauthier Remiche
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene. Journal of neuromuscular diseases 11 (4) (2024)
Tiziana Lencioni, Virginia Bandini, Cristina Schenone, Maria Lagostina, Alessia Aiello, Angelo Schenone, Maurizio Ferrarin, Carlo Trompetto, Laura Mori, null null
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT. Journal of neuromuscular diseases 11 (4) (2024)
Ulla Werlauff, Charlotte Handberg, Bente Kristensen, Sarah Glerup, Antoniett Vebel Pharao, Jeanette Strøm, Bente Thoft Jensen
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract Symptoms. Journal of neuromuscular diseases 11 (4) (2024)
Corentin Meyer, Norma Beatriz Romero, Teresinha Evangelista, Brunot Cadot, Jocelyn Laporte, Anne Jeannin-Girardon, Pierre Collet, Ali Ayadi, Kirsley Chennen, Olivier Poch
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa. Journal of neuromuscular diseases 11 (4) (2024)
Payam Mohassel, Meher Abdullah, Florian S Eichler, Teresa M Dunn
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders. Journal of neuromuscular diseases 11 (4) (2024)
Claudio Semplicini, Michela Agostini, Cinzia Andrigo, Stefano Masiero, Francesco Piccione, Gianni Sorarù
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment. Journal of neuromuscular diseases 11 (4) (2024)
Elisabetta Pupillo, Ammar Al-Chalabi, Serena Sassi, Emilio Arippol, Lorenzo Tinti, Eugenio Vitelli, Massimiliano Copetti, Maurizio A Leone, Elisa Bianchi
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review. Journal of neuromuscular diseases 11 (4) (2024)
Elisabetta Pupillo, Ammar Al-Chalabi, Serena Sassi, Emilio Arippol, Lorenzo Tinti, Eugenio Vitelli, Massimiliano Copetti, Maurizio A Leone, Elisa Bianchi
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review. Journal of neuromuscular diseases 11 (4) (2024)
Ulla Werlauff, Charlotte Handberg, Bente Kristensen, Sarah Glerup, Antoniett Vebel Pharao, Jeanette Strøm, Bente Thoft Jensen
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract Symptoms. Journal of neuromuscular diseases 11 (4) (2024)
Tiziana Lencioni, Virginia Bandini, Cristina Schenone, Maria Lagostina, Alessia Aiello, Angelo Schenone, Maurizio Ferrarin, Carlo Trompetto, Laura Mori, null null
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT. Journal of neuromuscular diseases 11 (4) (2024)
Dilek Cavusoglu, Beril Talim, Gazanfer Ekinci, Haluk Topaloglu
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy. Journal of neuromuscular diseases 11 (4) (2024)
Catarina Olimpio, Ida Paramonov, Leslie Matalonga, Steven Laurie, Katherine Schon, Kiran Polavarapu, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease. Journal of neuromuscular diseases 11 (4) (2024)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice. Journal of neuromuscular diseases 11 (4) (2024)
Elisabetta Pupillo, Ammar Al-Chalabi, Serena Sassi, Emilio Arippol, Lorenzo Tinti, Eugenio Vitelli, Massimiliano Copetti, Maurizio A Leone, Elisa Bianchi
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review. Journal of neuromuscular diseases 11 (4) (2024)
Sam Geuens, Nathalie Goemans, Jurgen Lemiere, Nathalie Doorenweerd, Liesbeth De Waele
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice. Journal of neuromuscular diseases 11 (4) (2024)
Tiziana Lencioni, Virginia Bandini, Cristina Schenone, Maria Lagostina, Alessia Aiello, Angelo Schenone, Maurizio Ferrarin, Carlo Trompetto, Laura Mori, null null
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT. Journal of neuromuscular diseases 11 (4) (2024)