Pages that link to "Q45750904"
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The following pages link to Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification (Q45750904):
Displaying 50 items.
- From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders (Q26798431) (← links)
- Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification (Q27340260) (← links)
- Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export (Q30397541) (← links)
- A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia (Q34215715) (← links)
- Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. (Q35582428) (← links)
- A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome (Q36045072) (← links)
- Concurrence of Fahr's disease and brain tumor: A case report and review of the literature (Q36335606) (← links)
- O056. Migraine as presenting symptom of SLC20A2gene mutations (Q36863905) (← links)
- Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid. (Q36693614) (← links)
- PDGF, pericytes and the pathogenesis of idiopathic basal ganglia calcification (IBGC). (Q38221603) (← links)
- The genetics of primary familial brain calcifications. (Q38248408) (← links)
- Diagnosis and treatment of chorea syndromes (Q38332316) (← links)
- Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. (Q38366291) (← links)
- Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization (Q38672327) (← links)
- Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling (Q38949908) (← links)
- APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review (Q39011999) (← links)
- Brain Calcification and Movement Disorders (Q39093165) (← links)
- Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2. (Q39303726) (← links)
- Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. (Q39348698) (← links)
- Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing (Q39721966) (← links)
- XPR1 mutations are a rare cause of primary familial brain calcification. (Q40733370) (← links)
- Neuroprotective effect of 5-aminolevulinic acid against low inorganic phosphate in neuroblastoma SH-SY5Y cells. (Q41050949) (← links)
- Late-Onset Mania in a Patient with Movement Disorder and Basal Ganglia Calcifications: A Challenge for Diagnosis and Treatment (Q41150179) (← links)
- Primary Brain Calcification Causal PiT2 Transport-Knockout Variants can Exert Dominant Negative Effects on Wild-Type PiT2 Transport Function in Mammalian Cells. (Q42009051) (← links)
- Clinical and radiological diversity in genetically confirmed primary familial brain calcification (Q42362350) (← links)
- Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene. (Q42428156) (← links)
- Primary familial brain calcification: update on molecular genetics (Q42473012) (← links)
- Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. (Q42485879) (← links)
- PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib (Q42819833) (← links)
- Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. (Q44293817) (← links)
- Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation (Q46275762) (← links)
- Ifngr1 and Stat1 mediated canonical Ifn-γ signaling drives nigrostriatal degeneration (Q47382007) (← links)
- Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. (Q47448256) (← links)
- Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. (Q47835809) (← links)
- Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families (Q48261681) (← links)
- Phosphate Transporters Expression in Patients with Primary Familial Brain Calcifications (Q48332394) (← links)
- Primary familial brain calcification in the IBGC2 kindred: All linkage roads lead to SLC20A2. (Q48424684) (← links)
- Primary familial brain calcification: Genetic analysis and clinical spectrum (Q48496042) (← links)
- Novel mutation of SLC20A2 in an Italian patient presenting with migraine (Q48570685) (← links)
- A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion. (Q48811382) (← links)
- Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. (Q49968236) (← links)
- Dramatic improvement of parkinsonian symptoms after gluten-free diet introduction in a patient with silent celiac disease. (Q53081940) (← links)
- A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients. (Q54964035) (← links)
- Primary brain calcification: an international study reporting novel variants and associated phenotypes (Q56930830) (← links)
- Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification (Q57083848) (← links)
- PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy (Q57083849) (← links)
- A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter (Q58597969) (← links)
- Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells (Q64074394) (← links)
- Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification (Q64077224) (← links)
- Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response (Q64103980) (← links)