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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
It is reported here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease, and it is shown that SOR l1 directs trafficking of APP into recycling pathways and that when SORl1 is underexpressed, APP is sorted into Aβ-generating compartments.
Conscious Expectation and Unconscious Conditioning in Analgesic, Motor, and Hormonal Placebo/Nocebo Responses
The effects of opposing verbal suggestions on experimental ischemic arm pain in healthy volunteers and on motor performance in Parkinsonian patients are analyzed and found that verbally induced expectations of analgesia/hyperalgesia and motor improvement/worsening antagonized completely the effects of a conditioning procedure.
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Evaluated the frequency of SQSTM1 mutations in a dataset of unrelated patients with FTLD or ALS, in comparison with healthy controls and patients with Paget disease of bone (PDB), and suggested a pathogenetic role for these mutations.
Conduction velocity along human muscle fibers in situ
As direct muscle stimulation is feasible and safe, propagation velocity along single fibers can be determined in situ over a long distance and the distally evoked potentials show a linear relationship between latency and distance.
Voxel‐Based Morphometry Reveals Gray Matter Abnormalities in Migraine
This work has shown that migraine may be associated with subtle brain lesions, and has the potential to improve the diagnosis and treatment of migraine patients with prior history of migraine.
SQSTM1 gene analysis and gene‐environment interaction in Paget's disease of bone
It is suggested that animal‐related factors may be important in the etiology of PDB and may interact with SQSTM1 mutations in influencing disease severity.
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Sir, A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis/frontotemporal lobar degeneration (ALS/FTLD), reporting a p.S59L substitution