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Wyszukujesz frazę ""Cereda, C"" wg kryterium: Autor


Wyświetlanie 1-5 z 5
Tytuł:
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
Autorzy:
Palmieri I; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Valente M; Laboratory of Clinical Pathology Microbiology and Genetics, SS. Annunziata Hospital, 74100 Taranto, Italy.
Farina LM; Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Gana S; Medical Genetics Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Minafra B; Parkinson and Movement Disorders Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Zangaglia R; Parkinson and Movement Disorders Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Pansarasa O; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Sproviero D; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Costa A; Unit of Behavioral Neurology, IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Pacchetti C; Parkinson and Movement Disorders Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Pichiecchio A; Advanced Imaging and Radiomics Center, Neuroradiology Department, IRCCS Mondino Foundation, 27100 Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Gagliardi S; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Cereda C; Genomic and Post-Genomic Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 08; Vol. 22 (8). Date of Electronic Publication: 2021 Apr 08.
Typ publikacji:
Case Reports
MeSH Terms:
Mutation*
Cerebral Amyloid Angiopathy/*diagnosis
Cerebral Amyloid Angiopathy/*genetics
Cognitive Dysfunction/*diagnosis
Cognitive Dysfunction/*genetics
Presenilin-1/*genetics
Alleles ; Brain/diagnostic imaging ; Brain/pathology ; DNA Mutational Analysis ; Genetic Association Studies ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Models, Molecular ; Phenotype ; Presenilin-1/chemistry ; Protein Conformation
Raport
Tytuł:
TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage.
Autorzy:
Giannini M; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Andalusian Center of Molecular Biology and Regenerative Medicine-CABIMER, Universidad de Sevilla-CSIC-Universidad Pablo de Olavide, Seville, Spain.
Bayona-Feliu A; Andalusian Center of Molecular Biology and Regenerative Medicine-CABIMER, Universidad de Sevilla-CSIC-Universidad Pablo de Olavide, Seville, Spain.; Departamento de Genética, Facultad de Biología, Universidad de Sevilla, Seville, Spain.
Sproviero D; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
Barroso SI; Andalusian Center of Molecular Biology and Regenerative Medicine-CABIMER, Universidad de Sevilla-CSIC-Universidad Pablo de Olavide, Seville, Spain.
Cereda C; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
Aguilera A; Andalusian Center of Molecular Biology and Regenerative Medicine-CABIMER, Universidad de Sevilla-CSIC-Universidad Pablo de Olavide, Seville, Spain.; Departamento de Genética, Facultad de Biología, Universidad de Sevilla, Seville, Spain.
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Źródło:
PLoS genetics [PLoS Genet] 2020 Dec 10; Vol. 16 (12), pp. e1009260. Date of Electronic Publication: 2020 Dec 10 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Breaks, Double-Stranded*
Mutation*
R-Loop Structures*
Amyotrophic Lateral Sclerosis/*genetics
DNA-Binding Proteins/*genetics
Animals ; Cells, Cultured ; Genomic Instability ; HeLa Cells ; Homeostasis ; Humans ; Male ; Mice ; Middle Aged
Czasopismo naukowe
Tytuł:
Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.
Autorzy:
Bandettini Di Poggio M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa.
Monti Bragadin M
Reni L
Doria-Lamba L
Cereda C
Pardini M
Roccatagliata L
Rossi A
Schenone A
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Źródło:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2014 Mar; Vol. 15 (1-2), pp. 141-4. Date of Electronic Publication: 2013 Oct 01.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Brain/*pathology
Bulbar Palsy, Progressive/*diagnosis
Bulbar Palsy, Progressive/*genetics
Hearing Loss, Sensorineural/*diagnosis
Hearing Loss, Sensorineural/*genetics
Membrane Transport Proteins/*genetics
Mutation/*genetics
Bulbar Palsy, Progressive/physiopathology ; Bulbar Palsy, Progressive/therapy ; Child ; Evoked Potentials, Auditory, Brain Stem/physiology ; Hearing Loss, Sensorineural/physiopathology ; Hearing Loss, Sensorineural/therapy ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Magnetic Resonance Imaging ; Male ; Neural Conduction
SCR Disease Name:
Brown-Vialetto-Van Laere syndrome
Czasopismo naukowe
    Wyświetlanie 1-5 z 5

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