共 7 条
[1]
DYT6 Dystonia: Review of the Literature and Creation of the UMD Locus-Specific Database (LSDB) for Mutations in the THAP1 Gene
[J].
Blanchard, Arnaud
;
Ea, Vuthy
;
Roubertie, Agathe
;
Martin, Melanie
;
Coquart, Coline
;
Claustres, Mireille
;
Beroud, Christophe
;
Collod-Beroud, Gwenaelle
.
HUMAN MUTATION,
2011, 32 (11)
:1213-1224

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:

Roubertie, Agathe
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U827, F-34000 Montpellier, France
Univ Montpellier I, UFR Med, F-34000 Montpellier, France
CHU Montpellier, Hop Gui de Chauliac, Serv Neuropediat, F-34000 Montpellier, France INSERM, U827, F-34000 Montpellier, France

Martin, Melanie
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U827, F-34000 Montpellier, France
Univ Montpellier I, UFR Med, F-34000 Montpellier, France INSERM, U827, F-34000 Montpellier, France

Coquart, Coline
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montpellier, Hop Arnaud de Villeneuve, Genet Mol Lab, F-34000 Montpellier, France INSERM, U827, F-34000 Montpellier, France

Claustres, Mireille
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U827, F-34000 Montpellier, France
Univ Montpellier I, UFR Med, F-34000 Montpellier, France
CHU Montpellier, Hop Arnaud de Villeneuve, Genet Mol Lab, F-34000 Montpellier, France INSERM, U827, F-34000 Montpellier, France

Beroud, Christophe
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U827, F-34000 Montpellier, France
Univ Montpellier I, UFR Med, F-34000 Montpellier, France
CHU Montpellier, Hop Arnaud de Villeneuve, Genet Mol Lab, F-34000 Montpellier, France INSERM, U827, F-34000 Montpellier, France

Collod-Beroud, Gwenaelle
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U827, F-34000 Montpellier, France
Univ Montpellier I, UFR Med, F-34000 Montpellier, France INSERM, U827, F-34000 Montpellier, France
[2]
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
[J].
Fuchs, Tania
;
Gavarini, Sophie
;
Saunders-Pullman, Rachel
;
Raymond, Deborah
;
Ehrlich, Michelle E.
;
Bressman, Susan B.
;
Ozelius, Laurie J.
.
NATURE GENETICS,
2009, 41 (03)
:286-288

Fuchs, Tania
论文数: 0 引用数: 0
h-index: 0
机构:
Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA

Gavarini, Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA

Saunders-Pullman, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Neurol, New York, NY 10003 USA
Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10461 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA

Raymond, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Neurol, New York, NY 10003 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA

Ehrlich, Michelle E.
论文数: 0 引用数: 0
h-index: 0
机构:
Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA
Mt Sinai Sch Med, Dept Pediat, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA

Bressman, Susan B.
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Neurol, New York, NY 10003 USA
Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10461 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA

Ozelius, Laurie J.
论文数: 0 引用数: 0
h-index: 0
机构:
Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA
Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA
[3]
Genetic screening of THAP1 in primary dystonia patients of India
[J].
Giri, Subhajit
;
Naiya, Tufan
;
Equbal, Zaffar
;
Sankhla, Charulata Savant
;
Das, Shyamal Kumar
;
Ray, Kunal
;
Ray, Jharna
.
NEUROSCIENCE LETTERS,
2017, 637
:31-37

Giri, Subhajit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India

Naiya, Tufan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India

论文数: 引用数:
h-index:
机构:

Sankhla, Charulata Savant
论文数: 0 引用数: 0
h-index: 0
机构:
PD Hinduja Natl Hosp & Med Res Ctr, Bombay, Maharashtra, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India

Das, Shyamal Kumar
论文数: 0 引用数: 0
h-index: 0
机构:
Bangur Inst Neurosci, Kolkata, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India

论文数: 引用数:
h-index:
机构:

论文数: 引用数:
h-index:
机构:
[4]
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
[J].
Houlden, H.
;
Schneider, S. A.
;
Paudel, R.
;
Melchers, A.
;
Schwingenschuh, P.
;
Edwards, M.
;
Hardy, J.
;
Bhatia, K. P.
.
NEUROLOGY,
2010, 74 (10)
:846-850

Houlden, H.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Schneider, S. A.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England
Univ Lubeck, Schilling Dept Clin & Mol Neurogenet, Dept Neurol, Lubeck, Germany UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Paudel, R.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Melchers, A.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Schwingenschuh, P.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Edwards, M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Hardy, J.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

Bhatia, K. P.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
[5]
Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
[J].
LeDoux, Mark S.
;
Xiao, Jianfeng
;
Rudzinska, Monika
;
Bastian, Robert W.
;
Wszolek, Zbigniew K.
;
Van Gerpen, Jay A.
;
Puschmann, Andreas
;
Momcilovic, Dragana
;
Vemula, Satya R.
;
Zhao, Yu
.
PARKINSONISM & RELATED DISORDERS,
2012, 18 (05)
:414-425

LeDoux, Mark S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA
Univ Tennessee Hlth Sci Ctr, Dept Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Xiao, Jianfeng
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA
Univ Tennessee Hlth Sci Ctr, Dept Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Rudzinska, Monika
论文数: 0 引用数: 0
h-index: 0
机构:
Jagiellonian Univ, Med Coll Krakow, Dept Neurol, Krakow, Poland Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Bastian, Robert W.
论文数: 0 引用数: 0
h-index: 0
机构:
Bastian Voice Inst, Downers Grove, IL USA Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Wszolek, Zbigniew K.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Van Gerpen, Jay A.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Puschmann, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Skane Univ Hosp, Dept Neurol, Scania, Sweden
Lund Univ, Dept Neurol, S-22100 Lund, Sweden Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Momcilovic, Dragana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Belgrade, Fac Med, Serbia Clin Child Neurol & Psychiat, Belgrade, Serbia Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Vemula, Satya R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA
Univ Tennessee Hlth Sci Ctr, Dept Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Zhao, Yu
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA
Univ Tennessee Hlth Sci Ctr, Dept Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA
[6]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
[J].
Richards, Sue
;
Aziz, Nazneen
;
Bale, Sherri
;
Bick, David
;
Das, Soma
;
Gastier-Foster, Julie
;
Grody, Wayne W.
;
Hegde, Madhuri
;
Lyon, Elaine
;
Spector, Elaine
;
Voelkerding, Karl
;
Rehm, Heidi L.
.
GENETICS IN MEDICINE,
2015, 17 (05)
:405-424

Richards, Sue
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Aziz, Nazneen
论文数: 0 引用数: 0
h-index: 0
机构:
Coll Amer Pathologists, Chicago, IL USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bale, Sherri
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bick, David
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Das, Soma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Gastier-Foster, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA
Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Hegde, Madhuri
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Lyon, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Spector, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Voelkerding, Karl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
[7]
Novel THAP1 sequence variants in primary dystonia
[J].
Xiao, J.
;
Zhao, Y.
;
Bastian, R. W.
;
Perlmutter, J. S.
;
Racette, B. A.
;
Tabbal, S. D.
;
Karimi, M.
;
Paniello, R. C.
;
Wszolek, Z. K.
;
Uitti, R. J.
;
Van Gerpen, J. A.
;
Simon, D. K.
;
Tarsy, D.
;
Hedera, P.
;
Truong, D. D.
;
Frei, K. P.
;
Batish, S. Dev
;
Blitzer, A.
;
Pfeiffer, R. F.
;
Gong, S.
;
LeDoux, M. S.
.
NEUROLOGY,
2010, 74 (03)
:229-238

Xiao, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Zhao, Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Bastian, R. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Bastian Voice Inst, Downers Grove, IL USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Perlmutter, J. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Racette, B. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Tabbal, S. D.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Karimi, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Paniello, R. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Wszolek, Z. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Uitti, R. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Van Gerpen, J. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Simon, D. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Tarsy, D.
论文数: 0 引用数: 0
h-index: 0
机构:
Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

论文数: 引用数:
h-index:
机构:

Truong, D. D.
论文数: 0 引用数: 0
h-index: 0
机构:
Parkinsons & Movement Disorder Inst, Fountain Valley, CA USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Frei, K. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Parkinsons & Movement Disorder Inst, Fountain Valley, CA USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Batish, S. Dev
论文数: 0 引用数: 0
h-index: 0
机构:
Athena Diagnost Inc, Worcester, MA USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Blitzer, A.
论文数: 0 引用数: 0
h-index: 0
机构:
New York Ctr Voice & Swallowing Disorders, New York, NY USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Pfeiffer, R. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

Gong, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA

LeDoux, M. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA
Univ Tennessee, Hlth Sci Ctr, Dept Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA