DOI: 10.1212/wnl.57.4.621. Screening for PS1 mutations in a referral-based series of AD cases

Screening for PS1 mutations in a referral-based series of AD cases

10.1212/wnl.57.4.621

Crossref journal-article

Ovid Technologies (Wolters Kluwer Health)

Neurology (276)

Bibliography

Rogaeva, E. A., Fafel, K. C., Song, Y. Q., Medeiros, H., Sato, C., Liang, Y., Richard, E., Rogaev, E. I., Frommelt, P., Sadovnick, A. D., Meschino, W., Rockwood, K., Boss, M. A., Mayeux, R., & St. GeorgeâHyslop, P. (2001). Screening for PS1 mutations in a referral-based series of AD cases. Neurology, 57(4), 621â625.

Authors 15

E. A. Rogaeva (first)
K.C. Fafel (additional)
Y.Q. Song (additional)
H. Medeiros (additional)
C. Sato (additional)
Y. Liang (additional)
E. Richard (additional)
E.I. Rogaev (additional)
P. Frommelt (additional)
A. D. Sadovnick (additional)
W. Meschino (additional)
K. Rockwood (additional)
M. A. Boss (additional)
R. Mayeux (additional)
P. St. George–Hyslop (additional)

References 26 Referenced 155

10.1055/s-2008-1040852
10.1038/375754a0
10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J
10.1097/00019052-200008000-00003
10.1002/ana.410440617
10.1086/302200
10.1016/S0140-6736(96)91140-X
10.1093/hmg/9.3.325
Korovaitseva GI, Bukina A, Farrer LA, et al. Presenilin polymorphisms in Alzheimer’s disease. Lancet . 1997; 350: 959. / Lancet (1997)
10.1002/(SICI)1098-2272(1997)14:3<307::AID-GEPI8>3.0.CO;2-1
10.1006/geno.1996.4523
Swets JA Pickett RM. Evaluation of diagnostic systems: methods from signal detection theory. New York: Academic Press 1982: 15–45. (10.1016/B978-0-12-679080-1.50008-6)
Klein JP Moeschberger ML. Survival analysis: techniques for censored and truncated data. New York: Springer-Verlag 1997.
Moretti PM, Giordani B, Kluin K, et al. Early-onset familial Alzheimer’s disease and spastic paraparesis associated with a novel insertional mutation of the presenilin 1 gene. Neurobiol Aging . 2000; 21: S175. / Neurobiol Aging (2000)
10.1001/archneur.56.1.65
10.1016/S0304-3940(97)00950-6
10.1073/pnas.94.10.5090
10.1073/pnas.94.10.5349
10.1074/jbc.M909624199
10.1074/jbc.274.12.7615
10.1038/nm0498-452
10.1002/1531-8249(200011)48:5<806::AID-ANA18>3.0.CO;2-F
10.1097/00001756-199704140-00043
10.1086/302553
10.1038/22124
10.1038/35050110

Dates

Type	When
Created	13 years, 3 months ago (May 13, 2012, 9:55 a.m.)
Deposited	1 year, 5 months ago (March 27, 2024, 8:14 a.m.)
Indexed	1 month, 3 weeks ago (July 11, 2025, 6:51 a.m.)
Issued	24 years ago (Aug. 28, 2001)
Published	24 years ago (Aug. 28, 2001)
Published Print	24 years ago (Aug. 28, 2001)

Funders 0

None

BibTeX

@article{Rogaeva_2001, title={Screening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutations}, volume={57}, ISSN={1526-632X}, url={http://dx.doi.org/10.1212/wnl.57.4.621}, DOI={10.1212/wnl.57.4.621}, number={4}, journal={Neurology}, publisher={Ovid Technologies (Wolters Kluwer Health)}, author={Rogaeva, E. A. and Fafel, K.C. and Song, Y.Q. and Medeiros, H. and Sato, C. and Liang, Y. and Richard, E. and Rogaev, E.I. and Frommelt, P. and Sadovnick, A. D. and Meschino, W. and Rockwood, K. and Boss, M. A. and Mayeux, R. and St. George–Hyslop, P.}, year={2001}, month=aug, pages={621–625} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        7,
        11
      ]
    ],
    "date-time": "2025-07-11T10:51:35Z",
    "timestamp": 1752231095938
  },
  "reference-count": 26,
  "publisher": "Ovid Technologies (Wolters Kluwer Health)",
  "issue": "4",
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        2001,
        8,
        28
      ]
    ]
  },
  "DOI": "10.1212/wnl.57.4.621",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2012,
        5,
        13
      ]
    ],
    "date-time": "2012-05-13T13:55:37Z",
    "timestamp": 1336917337000
  },
  "page": "621-625",
  "source": "Crossref",
  "is-referenced-by-count": 155,
  "title": "Screening for PS1 mutations in a referral-based series of AD cases",
  "prefix": "10.1212",
  "volume": "57",
  "author": [
    {
      "given": "E. A.",
      "family": "Rogaeva",
      "sequence": "first",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "K.C.",
      "family": "Fafel",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "Y.Q.",
      "family": "Song",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "H.",
      "family": "Medeiros",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "C.",
      "family": "Sato",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "Y.",
      "family": "Liang",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "E.",
      "family": "Richard",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "E.I.",
      "family": "Rogaev",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "P.",
      "family": "Frommelt",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "A. D.",
      "family": "Sadovnick",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "W.",
      "family": "Meschino",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "K.",
      "family": "Rockwood",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "M. A.",
      "family": "Boss",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "R.",
      "family": "Mayeux",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    },
    {
      "given": "P.",
      "family": "St. George\u2013Hyslop",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "From the Centre for Research in Neurodegenerative Diseases and Division of Neurology (Drs. Rogaeva, Song, Richard, Rogaev, and St. George\u2013Hyslop, and H. Medeiros, C. Sato, and Y. Liang), Department of Medicine, The University Health Network, Toronto, Ontario, Canada; Athena Diagnostics Inc. (Dr. Boss and K. Fafel), Worcester, MA; Asklepios Klinik Schaufling (Dr. Frommelt), Department of Neurological Rehabilitation, Bavaria, Germany; Departments of Medical Genetics and Medicine (Dr. Sadovnick),..."
        }
      ]
    }
  ],
  "member": "276",
  "reference": [
    {
      "key": "e_1_3_1_2_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1055/s-2008-1040852"
    },
    {
      "key": "e_1_3_1_3_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/375754a0"
    },
    {
      "key": "e_1_3_1_4_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J"
    },
    {
      "key": "e_1_3_1_5_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1097/00019052-200008000-00003"
    },
    {
      "key": "e_1_3_1_6_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/ana.410440617"
    },
    {
      "key": "e_1_3_1_7_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1086/302200"
    },
    {
      "key": "e_1_3_1_8_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0140-6736(96)91140-X"
    },
    {
      "key": "e_1_3_1_9_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/hmg/9.3.325"
    },
    {
      "key": "e_1_3_1_10_2",
      "first-page": "959.",
      "volume": "350",
      "year": "1997",
      "unstructured": "Korovaitseva GI, Bukina A, Farrer LA, et al. Presenilin polymorphisms in Alzheimer\u2019s disease. Lancet . 1997; 350: 959.",
      "journal-title": "Lancet"
    },
    {
      "key": "e_1_3_1_11_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/(SICI)1098-2272(1997)14:3<307::AID-GEPI8>3.0.CO;2-1"
    },
    {
      "key": "e_1_3_1_12_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006/geno.1996.4523"
    },
    {
      "key": "e_1_3_1_13_2",
      "doi-asserted-by": "crossref",
      "unstructured": "Swets   JA Pickett   RM.   Evaluation of diagnostic systems: methods from signal detection theory.   New York:   Academic Press 1982:  15\u201345.",
      "DOI": "10.1016/B978-0-12-679080-1.50008-6"
    },
    {
      "key": "e_1_3_1_14_2",
      "unstructured": "Klein   JP Moeschberger   ML.   Survival analysis: techniques for censored and truncated data.   New York:   Springer-Verlag 1997."
    },
    {
      "key": "e_1_3_1_15_2",
      "first-page": "S175.",
      "volume": "21",
      "year": "2000",
      "unstructured": "Moretti PM, Giordani B, Kluin K, et al. Early-onset familial Alzheimer\u2019s disease and spastic paraparesis associated with a novel insertional mutation of the presenilin 1 gene. Neurobiol Aging . 2000; 21: S175.",
      "journal-title": "Neurobiol Aging"
    },
    {
      "key": "e_1_3_1_16_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1001/archneur.56.1.65"
    },
    {
      "key": "e_1_3_1_17_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0304-3940(97)00950-6"
    },
    {
      "key": "e_1_3_1_18_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.94.10.5090"
    },
    {
      "key": "e_1_3_1_19_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.94.10.5349"
    },
    {
      "key": "e_1_3_1_20_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1074/jbc.M909624199"
    },
    {
      "key": "e_1_3_1_21_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1074/jbc.274.12.7615"
    },
    {
      "key": "e_1_3_1_22_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/nm0498-452"
    },
    {
      "key": "e_1_3_1_23_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1002/1531-8249(200011)48:5<806::AID-ANA18>3.0.CO;2-F"
    },
    {
      "key": "e_1_3_1_24_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1097/00001756-199704140-00043"
    },
    {
      "key": "e_1_3_1_25_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1086/302553"
    },
    {
      "key": "e_1_3_1_26_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/22124"
    },
    {
      "key": "e_1_3_1_27_2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/35050110"
    }
  ],
  "container-title": "Neurology",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://www.neurology.org/doi/pdfdirect/10.1212/WNL.57.4.621",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2024,
        3,
        27
      ]
    ],
    "date-time": "2024-03-27T12:14:16Z",
    "timestamp": 1711541656000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://www.neurology.org/doi/10.1212/WNL.57.4.621"
    }
  },
  "subtitle": [
    "21 Novel mutations"
  ],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2001,
        8,
        28
      ]
    ]
  },
  "references-count": 26,
  "journal-issue": {
    "issue": "4",
    "published-print": {
      "date-parts": [
        [
          2001,
          8,
          28
        ]
      ]
    }
  },
  "alternative-id": [
    "10.1212/WNL.57.4.621"
  ],
  "URL": "http://dx.doi.org/10.1212/WNL.57.4.621",
  "relation": {},
  "ISSN": [
    "0028-3878",
    "1526-632X"
  ],
  "subject": [],
  "container-title-short": "Neurology",
  "published": {
    "date-parts": [
      [
        2001,
        8,
        28
      ]
    ]
  }
}