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

Producción científica: Letter › revisión exhaustiva

30 Citas (Scopus)

Idioma original	English
Páginas (desde-hasta)	1205-1209
Número de páginas	5
Publicación	American Journal of Human Genetics
Volumen	61
N.º	5
DOI	https://doi.org/10.1086/301596
Estado	Published - 1997

Nota bibliográfica

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.

Financiación

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.

Financiadores	Número del financiador
NIH/NINDS	5PO1-NS21908
Institute of Neurological Disorders and Stroke National Advisory Neurological Disorders and Stroke Council	P01NS021908

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1086/301596

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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",

volume = "61",

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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

UR - https://www.scopus.com/pages/publications/0030730226

UR - https://www.scopus.com/pages/publications/0030730226#tab=citedBy

U2 - 10.1086/301596

DO - 10.1086/301596

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AN - SCOPUS:0030730226

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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]

Nota bibliográfica

Financiación

ASJC Scopus subject areas

Acceder al documento

Otros archivos y enlaces

Huella

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