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

J. Sainz; B. A. Minassian; J. M. Serratosa; M. N. Gee; L. M. Sakamoto; R. Iranmanesh; S. Bohlega; R. J. Baumann; S. Ryan; R. S. Sparkes; A. V. Delgado-Escueta

doi:10.1086/301596

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

J. Sainz, B. A. Minassian, J. M. Serratosa, M. N. Gee, L. M. Sakamoto, R. Iranmanesh, S. Bohlega, R. J. Baumann, S. Ryan, R. S. Sparkes, A. V. Delgado-Escueta

Research output: Contribution to journal › Letter › peer-review

30 Scopus citations

Original language	English (US)
Pages (from-to)	1205-1209
Number of pages	5
Journal	American Journal of Human Genetics
Volume	61
Issue number	5
DOIs	https://doi.org/10.1086/301596
State	Published - 1997

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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. (1997). Lafora progressive myoclonus epilepsy: Narrowing the chromosome 6q24 locus by recombinations and homozygosities [4]. American Journal of Human Genetics, 61(5), 1205-1209. https://doi.org/10.1086/301596

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

author = "J. Sainz and Minassian, {B. A.} and Serratosa, {J. M.} and Gee, {M. N.} and Sakamoto, {L. M.} and R. Iranmanesh and S. Bohlega and Baumann, {R. J.} and S. Ryan and Sparkes, {R. S.} and Delgado-Escueta, {A. V.}",

note = "Funding Information: We thank the families whose members have carried the burden of LD; without their cooperation this study would not have been possible. We also gratefully acknowledge the cooperation and assistance of Joan Spellman, Bernadette Sakamoto, and Susan G. Pietsch-Escueta, who helped recruit families and coordinate family studies. Our study was approved by the Human Subjects Protection Committee at the UCLA School of Medicine and the West Los Angeles DVA Medical Center. Each participating patient or, in the case of minors or deceased relatives, the responsible adult, signed an informed-consent form. Our project was supported by NIH-NINDS program project 5PO1-NS21908 (to A.V.D.-E.), by special contributions from Mrs. A. Malenfant and the Quebec Lafora's Disease Organization, and by Mrs. Vera Faludi of Sweden.",

year = "1997",

doi = "10.1086/301596",

language = "English (US)",

volume = "61",

pages = "1205--1209",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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TY - JOUR

T1 - Lafora progressive myoclonus epilepsy

T2 - Narrowing the chromosome 6q24 locus by recombinations and homozygosities [4]

AU - Sainz, J.

AU - Minassian, B. A.

AU - Serratosa, J. M.

AU - Gee, M. N.

AU - Sakamoto, L. M.

AU - Iranmanesh, R.

AU - Bohlega, S.

AU - Baumann, R. J.

AU - Ryan, S.

AU - Sparkes, R. S.

AU - Delgado-Escueta, A. V.

N1 - Funding Information: We thank the families whose members have carried the burden of LD; without their cooperation this study would not have been possible. We also gratefully acknowledge the cooperation and assistance of Joan Spellman, Bernadette Sakamoto, and Susan G. Pietsch-Escueta, who helped recruit families and coordinate family studies. Our study was approved by the Human Subjects Protection Committee at the UCLA School of Medicine and the West Los Angeles DVA Medical Center. Each participating patient or, in the case of minors or deceased relatives, the responsible adult, signed an informed-consent form. Our project was supported by NIH-NINDS program project 5PO1-NS21908 (to A.V.D.-E.), by special contributions from Mrs. A. Malenfant and the Quebec Lafora's Disease Organization, and by Mrs. Vera Faludi of Sweden.

PY - 1997

Y1 - 1997

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DO - 10.1086/301596

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AN - SCOPUS:0030730226

SN - 0002-9297

VL - 61

SP - 1205

EP - 1209

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

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

ASJC Scopus subject areas

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