Results 121 to 130 of about 47,101 (300)

Role of Imaging in Chronic Inflammatory Demyelinating Polyneuropathy: A Systematic Review

European Journal of Neurology, Volume 32, Issue 6, June 2025.
ABSTRACT Introduction Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a treatable immune‐mediated neuropathy with a relapsing‐remitting course and symmetrical proximal and distal weakness. Diagnosis relies on nerve conduction studies (NCS) to detect demyelination but can be difficult in atypical cases.
Stefano Tozza, Emanuele Cassano, Carmen Erra, Mario Muto, Francesco Habetswallner, Fiore Manganelli   +5 more
wiley   +1 more source

X-Linked Charcot-Marie-Tooth Disease in 93 Patients

Pediatric Neurology Briefs, 2001
The clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with X-linked dominant Charcot-Marie-Tooth (CMTX) disease are reported from the Hopital de la Salpetriere, Paris, France.
J Gordon Millichap
doaj   +1 more source

Poultry Diseases Expert System using Dempster-Shafer Theory [PDF]

arXiv, 2012
Based on World Health Organization (WHO) fact sheet in the 2011, outbreaks of poultry diseases especially Avian Influenza in poultry may raise global public health concerns due to their effect on poultry populations, their potential to cause serious disease in people, and their pandemic potential.
arxiv  

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease [PDF]

, 2017
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL).
Bettencourt, C, Blake, JC, Brandner, S, Gonzalez, MA, Hanna, MG, Horga, A, Houlden, H, Jaunmuktane, Z, Jerath, NU, Laurà, M, Liu, Y-T, Lunn, MP, Manji, H, Poh, R, Polke, JM, Reilly, MM, Shy, M, Wiethoff, S, Züchner, S   +18 more
core   +1 more source

Transfer RNA and small molecule therapeutics for aminoacyl‐tRNA synthetase diseases

The FEBS Journal, Volume 292, Issue 11, Page 2737-2750, June 2025.
Aminoacyl‐tRNA synthetases catalyze the ligation of a specific amino acid to a cognate tRNA—a reaction that lays the foundations for deciphering the genetic code. Pathogenic alleles in these synthetases can lead to dominant or recessive disorders, for which little or no disease‐specific treatments exist.
Tristan N. Samuels, Fanqi Wu, Maria Mahmood, Wajd A. Abuzaid, Nancy Sun, Angelica Moresco, Victoria M. Siu, Patrick O'Donoghue, Ilka U. Heinemann   +8 more
wiley   +1 more source

Upgrade on the orthopedic approach in Charcot-Marie-Tooth diseases [PDF]

, 2018
[Resumen] Objetivos Este artículo pretende ofrecer una síntesis acerca de las principales características de la intervención y abordaje de las complicaciones del pie en personas afectadas por las enfermedades de Charcot-Marie-Tooth.
Garabal-Barbeira, Jessica, Groba, Betania, Nieto-Riveiro, Laura, Pazos, A., Pereira-Loureiro, Javier, Pousada, Thais   +5 more
core   +3 more sources

Computational Approaches for Disease Gene Identification [PDF]

arXiv, 2017
Identifying disease genes from human genome is an important and fundamental problem in biomedical research. Despite many publications of machine learning methods applied to discover new disease genes, it still remains a challenge because of the pleiotropy of genes, the limited number of confirmed disease genes among whole genome and the genetic ...
arxiv  

Infusing Disease Knowledge into BERT for Health Question Answering, Medical Inference and Disease Name Recognition [PDF]

arXiv, 2020
Knowledge of a disease includes information of various aspects of the disease, such as signs and symptoms, diagnosis and treatment. This disease knowledge is critical for many health-related and biomedical tasks, including consumer health question answering, medical language inference and disease name recognition. While pre-trained language models like
arxiv  

Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT

Journal of the Peripheral Nervous System, Volume 30, Issue 2, June 2025.
ABSTRACT Background and Aims The CMT Infant Scale (CMTInfS) enables evaluation of infants/toddlers in clinic. Our aim was to evaluate the feasibility, reliability, and validity of a virtual version of the CMTInfS (vCMTInfS). Methods Children aged 55 months or less were evaluated either in clinic using CMTInfS or remotely via telemedicine using the ...
Rosemary Shy, Amanda Dragon, Shawna M. E. Feely, Gabrielle Donlevy, Kayla Cornett, Melissa Mandarakas, Tim Estilow, Joshua Burns, Michael E. Shy   +8 more
wiley   +1 more source

Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Egyptian Journal of Medical Human Genetics, 2015
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis.
Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim   +4 more
doaj   +1 more source