Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Spastic tetraplegia"'
Autor:
Hitoshi Tonomura, Masateru Nagae, Hidenobu Ishibashi, Kunihiko Hosoi, Takumi Ikeda, Yasuo Mikami, Kenji Takahashi
Publikováno v:
Medicina, Vol 60, Iss 5, p 755 (2024)
Klippel–Feil syndrome (KFS) is characterized by the congenital fusion of the cervical vertebrae and is sometimes accompanied by anomalies in the craniocervical junction. In basilar invagination (BI), which is a dislocation of the dens in an upper d
Externí odkaz:
https://doaj.org/article/ee60de705b52424ebf28388c348d29b9
Autor:
Feda E. Mohamed, Mohammad A. Ghattas, Taleb M. Almansoori, Mohammed Tabouni, Ibrahim Baydoun, Praseetha Kizhakkedath, Anne John, Hiba Alblooshi, Qudsia Shaukat, Fatma Al-Jasmi
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to SLC1A4 genetic variants since the first reported case in 2015. SLC1A4 encodes for the neutral amino acid transporter ASCT1 which is involved in the transp
Externí odkaz:
https://doaj.org/article/06b3d9fdd114481aba389f6fa08c6e4a
Autor:
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Icaro França Navarro Pinto, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina dos Santos Jorge, Emília Correia Souto, Paulo de Lima Serrano, Roberta Ismael Lacerda Machado, Marco Antônio Troccoli Chieia, Enrico Bertini, Acary Souza Bulle Oliveira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juv
Externí odkaz:
https://doaj.org/article/c91e9548ecc64b80805575c606c17e22
Autor:
Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang, Hai-Feng Li
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Introduction The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic
Externí odkaz:
https://doaj.org/article/332572cb2d494cd0a4d2c02ffcca1250
Akademický článek
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Akademický článek
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Autor:
Ruxandra Luciana Postoiu, Elena-Madalina Mocanu, Simona Schek, Magdalena Lapadat, Carmen Elena Chipăruș, Gelu Onose
Publikováno v:
Balneo and PRM Research Journal, Vol 13, Iss 1, p 485 (2022)
The traumatic brain injury remains a current research topic considering the severity and the in-creased incidence of this pathology. Both physical and neuro-psychological sequelae require a complex rehabilitation program. Material and methods. We des
Externí odkaz:
https://doaj.org/article/216de485d26f4f4caafc4e32b702ced3
Autor:
Carolina Maria Marin, Acary Souza Bulle Oliveira, Gustavo Carvalho Costa, Wladimir Bocca Vieira de Rezende Pinto, Roberta Ismael Lacerda Machado, Paulo de Lima Serrano, Emília Correia Souto, Bruno de Mattos Lombardi Badia, Enrico Bertini, Paulo Victor Sgobbi de Souza, Igor Braga Farias, Ana Carolina Dos Santos Jorge, Marco Antônio Troccoli Chieia, Icaro França Navarro Pinto
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840485c064d960b5f07fa56ae98d0b70
https://doaj.org/article/c91e9548ecc64b80805575c606c17e22
https://doaj.org/article/c91e9548ecc64b80805575c606c17e22
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
OBJECTIVE: To determine the prevalence of bruxism in individuals with cerebral palsy (CP) and evaluating the various factors associated METHODS: One hundred and ten adults diagnosed with CP were selected from six institutions for people with special
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f132ace9c8b2b9064a856b606c9cd7
https://doi.org/10.1111/scd.12650
https://doi.org/10.1111/scd.12650