• A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
• A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
• A familial Danish dementia rat shows impaired presynaptic and postsynaptic glutamatergic transmission
• A human monoclonal IgG that binds aβ assemblies and diverse amyloids exhibits anti-amyloid activities in vitro and in vivo
• A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness
• A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review
• A Novel ITM2B Mutation Associated with Familial Chinese Dementia
• Adult-onset hereditary cerebellar ataxia and neurosensory deafness
• Alzheimer's and Danish dementia peptides induce cataract and perturb retinal architecture in rats
• Amyloid and intracellular accumulation of BRI₂
• Amyloid peptides ABri and ADan show differential neurotoxicity in transgenic Drosophila models of familial British and Danish dementia
• An unusual picture of pigmentary dermatologic disease associated with retinitis pigmentosa, cataract and congenital deafness, oligophrenia and cerebellar ataxia
• BRI2 as an anti-Alzheimer gene
• Bri2 BRICHOS client specificity and chaperone activity are governed by assembly state
• Caspase-9 mediates synaptic plasticity and memory deficits of Danish dementia knock-in mice: caspase-9 inhibition provides therapeutic protection
• Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome
• Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults
• Clinical presentation of rapidly progressive familial Danish dementia
• Concurrence of Danish dementia and cataract: insights from the interactions of dementia associated peptides with eye lens alpha-crystallin
• Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits
• Deletion of the γ-secretase subunits Aph1B/C impairs memory and worsens the deficits of knock-in mice modeling the Alzheimer-like familial Danish dementia
• Electrodiagnostic Evaluation of Peripheral Neuropathy
• Electrodiagnostic Evaluation of Peripheral Neuropathy
• Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
• Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
• Hereditary deafness in man
• Increased AβPP processing in familial Danish dementia patients
• Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice
• Inhibition of γ-secretase worsens memory deficits in a genetically congruous mouse model of Danish dementia
• Interaction of ApoE3 and ApoE4 isoforms with an ITM2b/BRI2 mutation linked to the Alzheimer disease-like Danish dementia: Effects on learning and memory
• Mitochondrial encephalomyopathy with retinitis pigmentosa, cataract, deafness, ataxia and dementia--a case report
• Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema
• Mitochondriopathies
• Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness
• Ocular changes in heredo-oto-ophthalmo-encephalopathy
• Oculocraniosomatic neuromuscular disease with hypoparathyroidism
• Oxidative stress and mitochondria-mediated cell death mechanisms triggered by the familial Danish dementia ADan amyloid
• Proteomic characterization of a mouse model of familial Danish dementia
• Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)
• REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE
• Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders
• Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
• Tau as a mediator of neurotoxicity associated to cerebral amyloid angiopathy
• The ITM2B (BRI2) gene is a target of BCL6 repression: Implications for lymphomas and neurodegenerative diseases
• The plasma membrane calcium ATPase and disease
• Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy
• Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
• β- but not γ-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia