共 5 条
[1]
The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function
[J].
Cedarbaum, JM
;
Stambler, N
;
Malta, E
;
Fuller, C
;
Hilt, D
;
Thurmond, B
;
Nakanishi, A
.
JOURNAL OF THE NEUROLOGICAL SCIENCES,
1999, 169 (1-2)
:13-21

Cedarbaum, JM
论文数: 0 引用数: 0
h-index: 0
机构: Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA

Stambler, N
论文数: 0 引用数: 0
h-index: 0
机构: Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA

Malta, E
论文数: 0 引用数: 0
h-index: 0
机构: Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA

Fuller, C
论文数: 0 引用数: 0
h-index: 0
机构: Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA

Hilt, D
论文数: 0 引用数: 0
h-index: 0
机构: Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA

Thurmond, B
论文数: 0 引用数: 0
h-index: 0
机构: Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA

Nakanishi, A
论文数: 0 引用数: 0
h-index: 0
机构: Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA
[2]
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
[J].
Johnson, Jane O.
;
Mandrioli, Jessica
;
Benatar, Michael
;
Abramzon, Yevgeniya
;
Van Deerlin, Vivianna M.
;
Trojanowski, John Q.
;
Gibbs, J. Raphael
;
Brunetti, Maura
;
Gronka, Susan
;
Wuu, Joanne
;
Ding, Jinhui
;
McCluskey, Leo
;
Martinez-Lage, Maria
;
Falcone, Dana
;
Hernandez, Dena G.
;
Arepalli, Sampath
;
Chong, Sean
;
Schymick, Jennifer C.
;
Rothstein, Jeffrey
;
Landi, Francesco
;
Wang, Yong-Dong
;
Calvo, Andrea
;
Mora, Gabriele
;
Sabatelli, Mario
;
Monsurro, Maria Rosaria
;
Battistini, Stefania
;
Salvi, Fabrizio
;
Spataro, Rossella
;
Sola, Patrizia
;
Borghero, Giuseppe
;
Galassi, Giuliana
;
Scholz, Sonja W.
;
Taylor, J. Paul
;
Restagno, Gabriella
;
Chio, Adriano
;
Traynor, Bryan J.
.
NEURON,
2010, 68 (05)
:857-864

Johnson, Jane O.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Mandrioli, Jessica
论文数: 0 引用数: 0
h-index: 0
机构:
S Agostino Estense Hosp, Dept Neurosci, I-41126 Modena, Italy
Univ Modena, I-41126 Modena, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Benatar, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Abramzon, Yevgeniya
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Van Deerlin, Vivianna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Trojanowski, John Q.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Gibbs, J. Raphael
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Mol Neurosci, London WC1 3BG, England
UCL, Reta Lila Weston Labs, Inst Neurol, London WC1 3BG, England NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Brunetti, Maura
论文数: 0 引用数: 0
h-index: 0
机构:
ASO OIRMS Anna, Mol Genet Unit, Dept Clin Pathol, I-10126 Turin, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Gronka, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Wuu, Joanne
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Ding, Jinhui
论文数: 0 引用数: 0
h-index: 0
机构: NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

McCluskey, Leo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Martinez-Lage, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Falcone, Dana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Hernandez, Dena G.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Mol Genet Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
UCL, Dept Mol Neurosci, London WC1 3BG, England
UCL, Reta Lila Weston Labs, Inst Neurol, London WC1 3BG, England NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Arepalli, Sampath
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Mol Genet Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Chong, Sean
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Mol Genet Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Schymick, Jennifer C.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Rothstein, Jeffrey
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ Hosp, Dept Neurol, Baltimore, MD 21287 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Landi, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica Sacro Cuore, Dept Gerontol Geriatr & Rehabil Med, I-00168 Rome, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Wang, Yong-Dong
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Dev Neurobiol, Memphis, TN 38105 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Calvo, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Dept Neurosci, I-10126 Turin, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Mora, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Salvatore Maugeri Fdn, ALS Ctr, I-20100 Milan, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Sabatelli, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ, Neurol Inst, I-10100 Rome, Italy
ICOMM Assoc ALS Res, I-10100 Rome, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Monsurro, Maria Rosaria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Naples 2, Dept Neurol Sci, I-80138 Naples, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Battistini, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Siena, Dept Neurosci, Neurol Sect, I-53100 Siena, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Salvi, Fabrizio
论文数: 0 引用数: 0
h-index: 0
机构:
Bellaria Hosp, Dept Neurol, Ctr Diag & Cure Rare Dis, I-40100 Bologna, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

论文数: 引用数:
h-index:
机构:

Sola, Patrizia
论文数: 0 引用数: 0
h-index: 0
机构:
S Agostino Estense Hosp, Dept Neurosci, I-41126 Modena, Italy
Univ Modena, I-41126 Modena, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

论文数: 引用数:
h-index:
机构:

Galassi, Giuliana
论文数: 0 引用数: 0
h-index: 0
机构:
S Agostino Estense Hosp, Dept Neurosci, I-41126 Modena, Italy
Univ Modena, I-41126 Modena, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Scholz, Sonja W.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Mol Genet Unit, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
Georgetown Univ, Dept Neurosci, Washington, DC 20057 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Taylor, J. Paul
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Dev Neurobiol, Memphis, TN 38105 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Restagno, Gabriella
论文数: 0 引用数: 0
h-index: 0
机构:
ASO OIRMS Anna, Mol Genet Unit, Dept Clin Pathol, I-10126 Turin, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Chio, Adriano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Turin, Dept Neurosci, I-10126 Turin, Italy NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

Traynor, Bryan J.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
Johns Hopkins Univ Hosp, Dept Neurol, Baltimore, MD 21287 USA NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
[3]
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy
[J].
Ju, Jeong-Sun
;
Weihl, Conrad C.
.
HUMAN MOLECULAR GENETICS,
2010, 19
:R38-R45

Ju, Jeong-Sun
论文数: 0 引用数: 0
h-index: 0
机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

Weihl, Conrad 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 Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA
[4]
A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants
[J].
Tang, Wai Kwan
;
Li, Dongyang
;
Li, Chou-chi
;
Esser, Lothar
;
Dai, Renming
;
Guo, Liang
;
Xia, Di
.
EMBO JOURNAL,
2010, 29 (13)
:2217-2229

Tang, Wai Kwan
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

Li, Dongyang
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

Li, Chou-chi
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Intramural Res Support Program, SAIC Frederick, NIH, Frederick, MD 21701 USA NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

Esser, Lothar
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

Dai, Renming
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Intramural Res Support Program, SAIC Frederick, NIH, Frederick, MD 21701 USA NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

Guo, Liang
论文数: 0 引用数: 0
h-index: 0
机构:
IIT, BioCAT Adv Photon Source, Argonne Natl Lab, Argonne, IL USA NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

Xia, Di
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA
[5]
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
[J].
Watts, GDJ
;
Wymer, J
;
Kovach, MJ
;
Mehta, SG
;
Mumm, S
;
Darvish, D
;
Pestronk, A
;
Whyte, MP
;
Kimonis, VE
.
NATURE GENETICS,
2004, 36 (04)
:377-381

Watts, GDJ
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Wymer, J
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Kovach, MJ
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Mehta, SG
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Mumm, S
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Darvish, D
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Pestronk, A
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Whyte, MP
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA

Kimonis, VE
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Childrens Hosp Boston, Div Genet, Sch Med, Boston, MA 02115 USA