Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report [PDF]
Monika Turčanová Koprušáková +10 more
openalex +1 more source
Ultrasound‐Powered, Battery‐Free Implants via Triboelectric Energy Harvesting
Ultrasound‐driven triboelectric nanogenerators (US‐TENGs) present a promising approach to battery‐free implants by combining body‐safe ultrasound with the material and structural versatility of TENGs. This review categorizes current US‐TENG research into long‐term and transient short‐term applications and discusses key challenges in materials, device ...
Youngwook Chung +5 more
wiley +1 more source
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis +2 more
doaj
Charcot‐Marie‐Tooth disease in children
Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals ...
Ezgi Saylam +4 more
doaj +1 more source
The patient-reported impact of Charcot-Marie-Tooth disease in the real world: the design and conduct of a digital lifestyle study (CMT&Me) [PDF]
Florian P. Thomas +17 more
openalex +1 more source
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT [PDF]
OBJECTIVE: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1).
Blake, JC +13 more
core +1 more source
Charcot-Marie-Tooth Disease Subtypes and Genetics
Researchers at Wayne State University School of Medicine, Detroit, MI, identified distinguishing clinical and physiological features of subtypes of Charcot-Marie-Tooth (CMT) disease among 787 patients that could be used to direct genetic testing.
J Gordon Millichap
doaj +1 more source
ANESTHESIA AND DELIVERY IN PREGNANT PATIENTS WITH SYNDROMA CHARCOT-MARIE-TOOTH-HOFFMAN [PDF]
Pacijenti sa Charcot-Marie-Tooth-Hoffman sindromom, posebno trudnice, zaslužuju veliku pozornost kada je riječ o anesteziji. Odabir anesteziološke medikacije i tehnike prije svega je uvjetovan nepredvidvim odgovorom bolesnika na primjenu anestetičnih ...
Dunja Anzulović +4 more
core +1 more source
Differentiating Charcot–Marie–Tooth disease from chronic inflammatory demyelinating polyradiculoneuropathy: neurophysiology is not the only clue [PDF]
Claudia Sommer
openalex +1 more source
The experience of falls and balance impairment for people with Charcot-Marie-Tooth disease [PDF]
People with Charcot Marie Tooth disease (CMT) have impairments of balance and may fall more frequently than those without the condition. This qualitative study aimed to explore the experiences of falling and poor balance through focus group interviews.
Marsden, Jonathan F +3 more
core +2 more sources

