Genetics and Rare Diseases Research Division
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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
American journal of human genetics Apr, 2016 | Pubmed ID: 27040692
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.
Human molecular genetics 09, 2016 | Pubmed ID: 27466182
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
American journal of human genetics Oct, 2016 | Pubmed ID: 27666369
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
American journal of human genetics Oct, 2016 | Pubmed ID: 27666370
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
American journal of human genetics 02, 2018 | Pubmed ID: 29394990
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.
Archives of oral biology Jul, 2018 | Pubmed ID: 29705498
Biallelic mutations in early-onset, variably progressive neurodegeneration.
Neurology 07, 2018 | Pubmed ID: 29959261
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
American journal of human genetics 10, 2018 | Pubmed ID: 30290154
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
American journal of human genetics 06, 2019 | Pubmed ID: 31130282
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
American journal of human genetics 09, 2019 | Pubmed ID: 31447100
Prevalence, Type, and Molecular Spectrum of Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Genes 09, 2019 | Pubmed ID: 31487937
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
The Journal of experimental medicine 12, 2019 | Pubmed ID: 31601675
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Clinical epigenetics Jan, 2020 | Pubmed ID: 31910894
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Parkinsonism & related disorders 03, 2020 | Pubmed ID: 32120303
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