Results 171 to 180 of about 231,640 (348)

A novel mutation in X-linked Charcot-Marie-Tooth (CMTX1) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)

, 2010
Chizuru Akimoto, Mitsuya Morita, Masahiko Yamamoto, Imaharu Nakano   +3 more
openalex   +2 more sources

Family's socioeconomic and demographic factors on elements of children's dental and oral health: A scoping review

Clinical and Experimental Dental Research, EarlyView.
Abstract Background Family plays a significant role in children's dental and oral health (DOH) elements, such as children's DOH knowledge and practice, the development of children's dental fear and anxiety (DFA), children's dental visits, and children's DOH status.
Wisnu Fadila, Mugia B. Rahardja, Puguh Prasetyoputra, Anne A. Suwargiani, Yanu E. Prasetyo, Eriska Riyanti   +5 more
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta [PDF]

Marjo K. Hytönen, Julius Rönkkö, Sruthi Hundi, Tarja S. Jokinen, Emilia Suonto, Eeva Teräväinen, Jonas Donner, Rita La Rovere, Geert Bultynck, Emil Ylikallio, Henna Tyynismaa, Hannes Lohi   +11 more
openalex   +3 more sources

New Immunohistochemical Findings on Amelogenin and Dentin Sialophosphoprotein in Genetic Tooth Diseases. [PDF]

Int Dent J
Camacho-Escalera C, Ortega-Pinto A, Rojas-Flores S, Pianeta-Alviz R, Urzúa-Orellana B.   +4 more
europepmc   +1 more source

Progression of motor axon dysfunction and ectopic Nav1.8 expression in a mouse model of Charcot-Marie-Tooth disease 1B

, 2016
Mette Romer Rosberg, Susana Alvarez, Dennis Klein, Finn Cilius Nielsen, Rudolf Martini, S. Rock Levinson, Christian Krarup, Mihai Moldovan   +7 more
openalex   +2 more sources

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families [PDF]

, 2006
Ahmed Bouhouche, N. Birouk, H. Azzedine, Ali Benomar, G. Durosier, D. Ente, M.-P. Muriel, Merle Ruberg, I. Slassi, M. Yahyaoui, O. Dubourg, Réda Ouazzani, E. LeGuern   +12 more
openalex   +1 more source

Natural language processing‐based emotion and usage analysis of an AI‐powered chatbot for epilepsy support

Epilepsia Open, EarlyView.
Abstract Objective Artificial intelligence (AI)‐powered chatbots are increasingly used for patient education and mental health support, yet their effectiveness in epilepsy care remains underexplored. This study examines text‐based interactions between users and EpiloBot, an epilepsy‐focused chatbot, to understand conversational patterns and emotional ...
Keiichi Watanuki, Ryoya Oba, Naoki Nozawa, Tomoki Ishihara, Koko Oga, Takayuki Iwayama, Takafumi Shiganami, Sayaka Kobayashi, Hironori Kuga, Haruo Yoshimasu, Izumi Kuramochi   +10 more
wiley   +1 more source

Decision letter for "Novel <i>SBF1</i> splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease"

, 2018

openalex   +1 more source