BIOMAT Database Logo BIOMAT Database Logo

Nasu-Hakola Disease. 2018

Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

UI MeSH Term Description Entries
D008060 Lipodystrophy A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy. Lipodystrophies
D008562 Membrane Glycoproteins Glycoproteins found on the membrane or surface of cells. Cell Surface Glycoproteins,Surface Glycoproteins,Cell Surface Glycoprotein,Membrane Glycoprotein,Surface Glycoprotein,Glycoprotein, Cell Surface,Glycoprotein, Membrane,Glycoprotein, Surface,Glycoproteins, Cell Surface,Glycoproteins, Membrane,Glycoproteins, Surface,Surface Glycoprotein, Cell,Surface Glycoproteins, Cell
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010009 Osteochondrodysplasias Abnormal development of cartilage and bone. Dyschondroplasias,Hyperostosis Corticalis Generalisata,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Chondrodystrophic Myotonia,Dyschondroplasia,Endosteal Hyperostosis, Autosomal Recessive,Hyperphosphatasemia Tarda,Late-Onset Spondyloepiphyseal Dysplasia,Melnick-Needles Osteodysplasty,Myotonic Chondrodystrophy,Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities,Osteodysplasty of Melnick and Needles,SED Tarda,SJA Syndrome,Schwartz Jampel Aberfeld syndrome,Schwartz-Jampel Syndrome, Type 1,Schwartz-Jampel-Aberfeld Syndrome,Sost Sclerosing Bone Dysplasia,Sost-Related Sclerosing Bone Dysplasia,Spondylo-Epimetaphyseal Dysplasia With Myotonia,Spondyloepiphyseal Dysplasia Tarda, X-Linked,Spondyloepiphyseal Dysplasia, Late,Van Buchem Disease,X-Linked SED,X-Linked SEDT,X-Linked Spondyloepiphyseal Dysplasia Tarda,Chondrodystrophy, Myotonic,Dysplasia, Spondyloepiphyseal,Late Onset Spondyloepiphyseal Dysplasia,Late Spondyloepiphyseal Dysplasia,Melnick Needles Osteodysplasty,Melnick Needles Syndrome,Myotonia, Chondrodystrophic,Osteochondrodysplasia,Osteodysplasty, Melnick-Needles,SED, X-Linked,SEDT, X-Linked,Schwartz Jampel Syndrome,Schwartz Jampel Syndrome, Type 1,Spondyloepiphyseal Dysplasia Tarda, X Linked,Spondyloepiphyseal Dysplasia, Late-Onset,Syndrome, Schwartz-Jampel-Aberfeld,X Linked SED,X Linked SEDT,X Linked Spondyloepiphyseal Dysplasia Tarda
D011971 Receptors, Immunologic Cell surface molecules on cells of the immune system that specifically bind surface molecules or messenger molecules and trigger changes in the behavior of cells. Although these receptors were first identified in the immune system, many have important functions elsewhere. Immunologic Receptors,Immunologic Receptor,Immunological Receptors,Receptor, Immunologic,Receptors, Immunological
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D003072 Cognition Disorders Disorders characterized by disturbances in mental processes related to learning, thinking, reasoning, and judgment. Overinclusion,Disorder, Cognition,Disorders, Cognition
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Nasu-Hakola Disease.
November 2020, Journal of the Belgian Society of Radiology,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
[Membranous lipodystrophy (Nasu-Hakola disease)].
April 1993, Der Nervenarzt,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Nasu-Hakola disease revealed on X-ray.
January 2014, Internal medicine (Tokyo, Japan),
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Nasu-Hakola disease and primary microglial dysfunction.
September 2010, Nature reviews. Neurology,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
An Italian family with Nasu-Hakola disease.
July 2003, Journal of neurology,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Alzheimer's disease pathology in Nasu-Hakola disease brains.
February 2018, Intractable & rare diseases research,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
[Molecular Pathogenesis of Nasu-Hakola Disease Brain Lesions].
May 2016, Brain and nerve = Shinkei kenkyu no shinpo,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Teaching NeuroImages: Nasu Hakola syndrome.
June 2010, Neurology,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Extremity manifestations and surgical treatment for nasu hakola disease.
January 2014, Case reports in orthopedics,
Bedia Samanci, and Çağri Ulukan, and Tuncay Gündüz, and Murat Kürtüncü, and Mefkure Eraksoy
Nasu-Hakola Disease - A Rare Type of Presenile Dementia.
January 2022, Annals of Indian Academy of Neurology,
Copied contents to your clipboard!