Research Output 1974 2019

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Letter
2017

Considering spastic paraplegia type 7 and adult-onset Alexander disease: In reply

Remster, E. & Dubey, DI., Jul 1 2017, In : JAMA Neurology. 74, 7, 1 p.

Research output: Contribution to journalLetter

Alexander Disease
Spastic Paraplegia Type 7
Dissection
Pediatrics
2006
7 Citations (Scopus)

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Petel-Galil, Y., Benteer, B., Galil, Y. P., Zeev, B. B., Greenbaum, I., Vecsler, M., Goldman, B., Lohi, H., Minassian, B. A. & Gak, E., Dec 1 2006, In : Journal of Medical Genetics. 43, 12

Research output: Contribution to journalLetter

Methyl-CpG-Binding Protein 2
Rett Syndrome
Epigenomics
Cohort Studies
Mutation
8 Citations (Scopus)

Demystifying vaccination-associated encephalopathy

Sell, E. & Minassian, B. A., Jun 1 2006, In : Lancet Neurology. 5, 6, p. 465-466 2 p.

Research output: Contribution to journalLetter

Juvenile Myoclonic Epilepsy
Acute Disseminated Encephalomyelitis
Sodium Channels
Brain Diseases
Preschool Children
1997
29 Citations (Scopus)

Lafora progressive myoclonus epilepsy: Narrowing the chromosome 6q24 locus by recombinations and homozygosities [4]

Sainz, J., Minassian, B. A., Serratosa, J. M., Gee, M. N., Sakamoto, L. M., Iranmanesh, R., Bohlega, S., Baumann, R. J., Ryan, S., Sparkes, R. S. & Delgado-Escueta, A. V., Jan 1 1997, In : American Journal of Human Genetics. 61, 5, p. 1205-1209 5 p.

Research output: Contribution to journalLetter

Lafora Disease
Genetic Recombination
Chromosomes
1981

Letters to the Editor

Iannaccone, S. T., Griggs, R. C., Doriguzzi, C., Bertolotto, A., Ganzit, G. P., Mongini, T. & Palmucci, L., 1981, In : Muscle and Nerve. 4, 2, p. 176-178 3 p.

Research output: Contribution to journalLetter