Works matching DE "NEUROMUSCULAR diseases"

Results: 5000

Prominent and fast response to eculizumab in myasthenic crisis: the potential as rescue therapy in refractory myasthenia gravis.

Published in:

Neurological Sciences, 2025, v. 46, n. 7, p. 3299, doi. 10.1007/s10072-025-08128-4

By:

Messina, Christian;
Basile, Laura;
Crescimanno, Grazia;
Battaglia, Salvatore;
Scichilone, Nicola;
Brighina, Filippo;
Di Stefano, Vincenzo

Publication type:

Article

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100035

By:

Mathur, Priyanshu;
Kaur, Ashmeet;
Vijay, Urvashi;
Gupta, Ashok;
Agarwal, Kamlesh;
Agrawal, Lokesh

Publication type:

Article

Efficacy of respiratory muscle training in improving pulmonary function and survival in patients with amyotrophic lateral sclerosis: a systematic review and meta-analysis.

Published in:

Therapeutic Advances in Respiratory Disease, 2025, p. 1, doi. 10.1177/17534666251346095

By:

Benzo-Iglesias, María Jesús;
Rocamora-Pérez, Patricia;
Valverde-Martínez, María de los Ángeles;
García-Luengo, Amelia Victoria;
Benzo-Iglesias, Pedro Miguel;
López-Liria, Remedios

Publication type:

Article

A patient with dysmorphic features and spastic paraparesis of the lower extremities with mutations of GRID2 and SETX genes.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 111

By:

Nyankovska, Yana;
Pyrkosz, Antoni

Publication type:

Article

Botulinum toxin in fracture management: a scoping review.

Published in:

European Journal of Orthopaedic Surgery & Traumatology, 2025, v. 35, n. 1, p. 1, doi. 10.1007/s00590-025-04295-4

By:

Spanoudakis, Emmanuel;
Vampertzis, Themistoklis;
Wadia, Farokh;
Rad, Darius Rares;
Barmpagianni, Christina;
Zervos, Ioannis A;
Tsiridis, Eleftherios;
Galanis, Nikiforos

Publication type:

Article

The ABCs of neuropaediatrics.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 7, p. 828, doi. 10.1111/dmcn.16350

By:

Gerstl, Lucia;
Heinen, Florian

Publication type:

Article

Wearable sensors in paediatric neurology.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 7, p. 834, doi. 10.1111/dmcn.16239

By:

González Barral, Camila;
Servais, Laurent

Publication type:

Article

Evaluation of the Clinical and Prognostic Characteristics of Myasthenia Gravis Patients Followed Up in a Tertiary Neuromuscular Disease Center in Thrace Region of Turkey.

Published in:

Acta Neurologica Scandinavica, 2025, v. 2025, p. 1, doi. 10.1155/ane/6259666

By:

Uyar, Abdullah;
Durak, Enes;
Turgut, Nilda;
Subramanian, Senthilkumar

Publication type:

Article

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1707, doi. 10.1093/brain/awae371

By:

Dofash, Lein N H;
Miles, Lee B;
Saito, Yoshihiko;
Rivas, Eloy;
Calcinotto, Vanessa;
Oveissi, Sara;
Serrano, Rita J;
Templin, Rachel;
Ramm, Georg;
Rodger, Alison;
Haywood, Joel;
Ingley, Evan;
Clayton, Joshua S;
Taylor, Rhonda L;
Folland, Chiara L;
Groth, David;
Hock, Daniella H;
Stroud, David A;
Gorokhova, Svetlana;
Donkervoort, Sandra

Publication type:

Article

Non-resolving pneumonia with respiratory failure: scratch your neurons too.

Published in:

2024

By:

Khanduri, Rakhee Sodhi;
Aggarwal, Vinayak;
Sinha, Shivam;
Sama, Sonu

Publication type:

Case Study

Evaluation of dysphagia in patients with neurological diagnosis with the Turkish EAT-10 questionnaire.

Published in:

Clinical Science of Nutrition, 2025, v. 7, n. 1, p. 13, doi. 10.62210/ClinSciNutr.2025.100

By:

Sözgün, Şeyma;
Güzel, Cihat;
Çevik, Mehmet Uğur;
Yıldız, İsmail

Publication type:

Article

Duchenne Muscular Distrophy In Tafí Del Valle, Tucumán, Argentina.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 281

By:

Sarandría, María Eugenia;
Rey, Roberto;
de Rosa, Rodrigo;
Corbalán, Vanesa;
Mesa, Lilia

Publication type:

Article

Duchenne Muscular Distrophy In Tafí Del Valle, Tucumán, Argentina.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 281

By:

Sarandría, María Eugenia;
Rey, Roberto;
de Rosa, Rodrigo;
Corbalán, Vanesa;
Mesa, Lilia

Publication type:

Article

Metabolomics insights into Charcot–Marie–Tooth disease: toward biomarker discovery.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1543547

By:

Setlere, Signe;
Schiemer, Theresa;
Vaska, Annija;
Gailite, Linda;
Rots, Dmitrijs;
Kenina, Viktorija;
Klavins, Kristaps

Publication type:

Article

Navigating Neurodegeneration: Integrating Biomarkers, Neuroinflammation, and Imaging in Parkinson's, Alzheimer's, and Motor Neuron Disorders.

Published in:

Biomedicines, 2025, v. 13, n. 5, p. 1045, doi. 10.3390/biomedicines13051045

By:

Tanaka, Masaru;
Battaglia, Simone;
Liloia, Donato

Publication type:

Article

Neuronal hyperexcitability in dystrophin-deficient mdx hippocampal neurons: the importance of interleukin-6 and GABAergic regulation.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-00880-z

By:

Stephenson, Kimberley A.;
Xiao, Qiao;
Vaughan, Michael B.;
Peters, Polly;
Denley, Claire;
O'Meara, Sean;
Sheehan, Cecelia;
Rae, Mark G.;
O'Malley, Dervla

Publication type:

Article

Misregulation of the Ubiquitin–Proteasome System and Autophagy in Muscular Dystrophies Associated with the Dystrophin–Glycoprotein Complex.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 721, doi. 10.3390/cells14100721

By:

Bozzi, Manuela;
Sciandra, Francesca;
Bigotti, Maria Giulia;
Brancaccio, Andrea

Publication type:

Article

Current Challenges in Elucidating ALS Disease Mechanisms and Therapeutic Advances.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 715, doi. 10.3390/cells14100715

By:

Saxena, Smita;
Arnold, W. David

Publication type:

Article

Electrical Stimulation May Improve the Feeding and Nutritional Status of Children with Dysphagia.

Published in:

Applied Sciences (2076-3417), 2025, v. 15, n. 10, p. 5727, doi. 10.3390/app15105727

By:

Budkowska, Monika;
Kolanowski, Wojciech

Publication type:

Article

Itinerários Terapêuticos de Pacientes com Doenças Neuromusculares: Os Desafios Ocultos do Cuidado na Amazônia.

Published in:

Revista Movimenta, 2025, v. 18, n. 1, p. 97

By:

marques da Silva, Letícia;
Sales Medeiros, Ana Carolina;
Alves Baia, Ellen;
Rodrigues Neto, Jorge Lopes;
Furtado da Silva, Tamara;
da Silva Pinto, Denise

Publication type:

Article

Aplicação da Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders em duas Crianças com atrofia Muscular Espinal Tratados com Terapia Genética.

Published in:

Revista Movimenta, 2025, v. 18, n. 1, p. 83

By:

Alves Baia, Ellen;
da Silva Pinto, Denise;
Marques da Silva, Letícia;
Sales Medeiros, Ana Carolina;
Monteiro Rodrigues Neto, Jorge Lopes;
Furtado da Silva, Tamara

Publication type:

Article

Factors of Importance for Continuing Education After Primary School in Young People With Neuromuscular Diseases—Patient‐Reported Outcomes From a National Survey.

Published in:

International Journal of Pediatrics, 2025, v. 2025, p. 1, doi. 10.1155/ijpe/2604359

By:

Handberg, Charlotte;
Allergodt, Kristin;
Mahoney, Annette;
Højberg, Ann-Lisbeth;
Nimbalkar, Somashekhar Marutirao

Publication type:

Article

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 513, doi. 10.4103/neurol-india.Neurol-India-D-24-00552

By:

Kumar, Hari Shankar;
Shah, Nidhi;
Shah, Parth;
Kotecha, Udhaya;
Mistri, Mehul;
Jarullah, Bushra

Publication type:

Article

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.

Published in:

Genes, 2025, v. 16, n. 5, p. 585, doi. 10.3390/genes16050585

By:

Škarica, Mario;
Acsadi, Gyula;
Živković, Sasha A.

Publication type:

Article

Findings from transcriptomics and immunohistochemistry indicate an autoimmune disease targeting brainstem inhibitory interneurons in bovine spastic paresis.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0324633

By:

Krull, Frederik;
Hosseini, Shahrbanou;
Bleyer, Martina;
Brenig, Bertram

Publication type:

Article

TREATMENT DYNAMICS OF TIBIAL SHAFT FRACTURES IN CHILDREN – THE ROLE OF GENDER, AGE AND TREATMENT METHOD.

Published in:

Medical Review / Medicinski Pregled, 2024, v. 77, n. 5/6, p. 165, doi. 10.2298/MPNS2406165T

By:

TOPALOVIĆ, Božo;
MRATINKOVIĆ, Ivan;
RADULOVIĆ, Boris;
BJELOBRK, Mile;
MILANKOV, Vukadin

Publication type:

Article

A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03823-z

By:

Zhang, Jialong;
Chen, Xinyu;
Yan, Chong;
Gu, Xinyu;
Zhu, Wenhua;
Cao, Xuwei;
Zhou, Lei;
Luo, Sushan;
Lin, Jie;
Li, Zunbo;
Lu, Jiahong;
Zhao, Chongbo;
Qiao, Kai;
Yu, Xuefan;
Xi, Jianying

Publication type:

Article

A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03823-z

By:

Zhang, Jialong;
Chen, Xinyu;
Yan, Chong;
Gu, Xinyu;
Zhu, Wenhua;
Cao, Xuwei;
Zhou, Lei;
Luo, Sushan;
Lin, Jie;
Li, Zunbo;
Lu, Jiahong;
Zhao, Chongbo;
Qiao, Kai;
Yu, Xuefan;
Xi, Jianying

Publication type:

Article

DIFERENCIJALNA DIJAGNOZA HIPOTONIJE U DOJENAČKOJ DOBI.

Published in:

Fizikalna i Rehabilitacijska Medicina, 2025, v. 39, n. 1/2, p. 45, doi. 10.21751/FRM-39-1-2-5

By:

Klanac, Matea;
Matijević, Valentina;
Karšaj, Jelena Marunica;
Šušak, Velimir

Publication type:

Article

Electrophysiological Approaches to Understanding Brain–Muscle Interactions During Gait: A Systematic Review.

Published in:

Bioengineering (Basel), 2025, v. 12, n. 5, p. 471, doi. 10.3390/bioengineering12050471

By:

Seynaeve, Maura;
Mantini, Dante;
de Beukelaar, Toon T.

Publication type:

Article

Secretion CLEARANCE in Neuromuscular Disease.

Published in:

RT: The Journal for Respiratory Care Practitioners, 2009, v. 22, n. 1, p. 12

By:

Finder, Jonathan D.

Publication type:

Article

Orofacial Myofunctional Therapy: Legal and Treatment Guidelines for California Licensed Dental Hygienists.

Published in:

Journal of the California Dental Hygienists' Association, 2025, v. 43, n. 1, p. 21

By:

Long, Michael

Publication type:

Article

CE Course: The Function Junction: Critical Role of Bio-Adaptability in Mouth Breathing, Sleep Apnea and Orofacial Myofunctional Disorders.

Published in:

Journal of the California Dental Hygienists' Association, 2019, v. 36, n. 3, p. 11

By:

Benkert, Kimberly K.

Publication type:

Article

Improving Overall Health Through Orofacial Myofunctional Therapy... Kathy L. Winslow.

Published in:

2015

By:

Lee, Carol

Publication type:

Interview

Caring for Patients with Neuromuscular Disabilities.

Published in:: Journal of the California Dental Hygienists' Association, 2013, v. 29, n. 2, p. 12
Publication type:: Article

Analysis of gene expression differences between utrophin/dystrophin-deficient vs mdx skeletal muscles reveals a specific upregulation of slow muscle genes in limb muscles.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 81, doi. 10.1007/s10048-006-0031-7

By:

Baker, Patrick E.;
Kearney, Jessica A.;
Gong, Bendi;
Merriam, Anita P.;
Kuhn, Donald E.;
Porter, John D.;
Rafael-Fortney, Jill A.

Publication type:

Article

Early onset autosomal dominant spastic paraplegia caused by novel mutations inSPG3A.

Published in:

Neurogenetics, 2004, v. 5, n. 4, p. 239, doi. 10.1007/s10048-004-0191-2

By:

Abel, Annette;
Fonknechten, Nuria;
Hofer, Anne;
Dürr, Alexandra;
Cruaud, Corinne;
Voit, Thomas;
Weissenbach, Jean;
Brice, Alexis;
Klimpe, Sven;
Auburger, Georg;
Hazan, Jamilé

Publication type:

Article

Tracheostomy in infants: indications and outcomes.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2024, v. 81, n. 6, p. 356, doi. 10.2298/VSP240125028S

By:

Sovtić, Aleksandar;
Gojšina, Bojana;
Baljošević, Ivan;
Popović, Stefan

Publication type:

Article

Comparison of neurocognitive functions of offspring of schizophrenic, bipolar and controls.

Published in:

Klinik Psikofarmakoloji Bulteni, 2013, v. 23, p. S266

By:

Kenar, Julide;
Citak, Serhat;
Ceylan, Mehmet Emin;
Yesilyurt, Sema;
Yilmazer, Evrim

Publication type:

Article

Challenges and Advances in Molecular Diagnosis of Myopathies and Dystrophies in Perspective of Their Use in Developing Countries: Past, Present, and Future.

Published in:

2021

By:

Attri, Shivangi;
Gahlawat, Suresh;
Gahlawat, Suresh K

Publication type:

journal article

Myasthenia Gravis with Thymoma and a Rare Serological Profile-Report of a Case and Review of Literature.

Published in:

2021

By:

Narasimhaiah, Deepti;
Sreedharan, Sapna;
Anoop, A;
Radhakrishnan, Neelima;
Poyuran, Rajalakshmi;
Sreedharan, Sapna E;
Radhakrishnan, Neelima R

Publication type:

Case Study

Acute Stroke Presenting as Isolated Orthostatic Negative Myoclonus.

Published in:

2020

By:

Holla, Vikram;
Pene, Shailesh;
Kumar, Naveen;
Holla, Vikram V;
Pene, Shailesh Shivraj

Publication type:

Letter

The Multiple Cranial Nerve Palsies: A Prospective Observational Study.

Published in:

2020

By:

Mehta, Manan;
Garg, Ravindra;
Rizvi, Imran;
Verma, Rajesh;
Goel, Madhu;
Malhotra, Hardeep;
Malhotra, Kiran;
Kumar, Neeraj;
Uniyal, Ravi;
Pandey, Shweta;
Sharma, Praveen;
Mehta, Manan Mayur;
Garg, Ravindra Kumar;
Goel, Madhu Mati;
Malhotra, Hardeep Singh;
Malhotra, Kiran Preet;
Sharma, Praveen Kumar

Publication type:

journal article

Obituary- "Prof. AK Meena".

Published in:

2020

By:

Kaul, Subhash

Publication type:

Journal Article

The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care.

Published in:

2019

By:

Awasthi, Kapila;
Arya, Ranjana;
Bhattacharya, Alok;
Bhattacharya, Sudha

Publication type:

journal article

Influence of Exercise-Induced Injury on Knee Extension Torque in the Presence of Long-Standing Quadriceps Atrophy: Case Report.

Published in:

2005

By:

Mathur, Sunita;
MacIntyre, Donna L.;
Forster, Bruce B.;
Reid, W. Darlene

Publication type:

Report

Neuromuscular Re-education in the Rehabilitation of Cerebral Palsy.

Published in:: 1951
Publication type:: Abstract

Successful management of pregnancy-aggravated myasthenic crisis after complete remission of the disease.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2005, v. 45, n. 4, p. 331, doi. 10.1111/j.1479-828X.2005.00423.x

By:

Gurjar, Mohan;
Jagia, Manish

Publication type:

Article

Orphan Drugs: For Love or Money?

Published in:

Bio-IT World, 2003, v. 2, n. 8, p. 29

By:

Wolfson, Wendy

Publication type:

Article

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09746-5

By:

Faheem, Ali;
Masud, Rizwan;
Nasir, Rabea;
Awan, Zeeshan Khalid;
Nasir, Hammad Ali;
Khan, Zara Khalid;
Fayyaz, Hajra;
Raza, Syed Irfan

Publication type:

Article