共 6 条
[1]
A map of constrained coding regions in the human genome
[J].
Havrilla, James M.
;
Pedersen, Brent S.
;
Layer, Ryan M.
;
Quinlan, Aaron R.
.
NATURE GENETICS,
2019, 51 (01)
:88-+

Havrilla, James M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA
Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT 84112 USA Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA

Pedersen, Brent S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA
Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT 84112 USA Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA

Layer, Ryan M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, BioFrontiers Inst, Boulder, CO 80309 USA
Univ Colorado, Dept Comp Sci, Boulder, CO 80309 USA Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA

Quinlan, Aaron R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA
Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT 84112 USA
Univ Utah, Dept Biomed Informat, Salt Lake City, UT 84108 USA Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA
[2]
ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease
[J].
He, Jin
;
Guo, Lingling
;
Lin, Shan
;
Chen, Wenfeng
;
Xu, Guorong
;
Cai, Bin
;
Xu, Liuqing
;
Hong, Jingmei
;
Qiu, Liangliang
;
Wang, Ning
;
Chen, Wanjin
.
HUMAN MUTATION,
2019, 40 (12)
:2334-2343

He, Jin
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China
Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Guo, Lingling
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Lin, Shan
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Chen, Wenfeng
论文数: 0 引用数: 0
h-index: 0
机构:
Fuzhou Univ, Inst Life Sci, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Xu, Guorong
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Cai, Bin
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China
Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Xu, Liuqing
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Hong, Jingmei
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Qiu, Liangliang
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Wang, Ning
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China
Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China

Chen, Wanjin
论文数: 0 引用数: 0
h-index: 0
机构:
Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou, Fujian, Peoples R China
Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, 20 Chazhong Rd, Fuzhou 350005, Fujian, Peoples R China
[3]
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
[J].
Lassuthova, Petra
;
Rebelo, Adriana P.
;
Ravenscroft, Gianina
;
Lamont, Phillipa J.
;
Davis, Mark R.
;
Manganelli, Fiore
;
Feely, Shawna M.
;
Bacon, Chelsea
;
Brozkova, Dana Safka
;
Haberlova, Jana
;
Mazanec, Radim
;
Tao, Feifei
;
Saghira, Cima
;
Abreu, Lisa
;
Courel, Steve
;
Powell, Eric
;
Buglo, Elena
;
Bis, Dana M.
;
Baxter, Megan F.
;
Ong, Royston W.
;
Marns, Lorna
;
Lee, Yi-Chung
;
Bai, Yunhong
;
Isom, Daniel G.
;
Barro-Soria, Rene
;
Chung, Ki W.
;
Scherer, Steven S.
;
Larsson, H. Peter
;
Laing, Nigel G.
;
Choi, Byung-Ok
;
Seeman, Pavel
;
Shy, Michael E.
;
Santoro, Lucio
;
Zuchner, Stephan
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2018, 102 (03)
:505-514

论文数: 引用数:
h-index:
机构:

Rebelo, Adriana P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Ravenscroft, Gianina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Lamont, Phillipa J.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Perth Hosp, Neurogenet Unit, Perth, WA 6000, Australia Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Davis, Mark R.
论文数: 0 引用数: 0
h-index: 0
机构:
QEII Med Ctr, PathWest Lab Med, Dept Diagnost Genom, Neurogenet Unit, Nedlands, WA 6009, Australia Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

论文数: 引用数:
h-index:
机构:

Feely, Shawna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Bacon, Chelsea
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Brozkova, Dana Safka
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic
Univ Hosp Motol, Prague 15006, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Haberlova, Jana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Motol, Prague 15006, Czech Republic
Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, Prague 15006, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Mazanec, Radim
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Motol, Prague 15006, Czech Republic
Charles Univ Prague, Fac Med 2, Dept Neurol, Prague 15006, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Tao, Feifei
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Saghira, Cima
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Abreu, Lisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Courel, Steve
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Powell, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA
Genesis Project Fdn, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Buglo, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Bis, Dana M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Baxter, Megan F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Ong, Royston W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Marns, Lorna
论文数: 0 引用数: 0
h-index: 0
机构:
QEII Med Ctr, PathWest Lab Med, Dept Diagnost Genom, Neurogenet Unit, Nedlands, WA 6009, Australia Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

论文数: 引用数:
h-index:
机构:

Bai, Yunhong
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Isom, Daniel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Sylvester Comprehens Canc Ctr, Dept Pharmacol, Miami, FL 33136 USA
Univ Miami, Ctr Computat Sci, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Barro-Soria, Rene
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dept Physiol & Biophys, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

论文数: 引用数:
h-index:
机构:

Scherer, Steven S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Larsson, H. Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Dept Physiol & Biophys, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Laing, Nigel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Australia, Med Res Ctr, Nedlands, WA 6009, Australia
Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Choi, Byung-Ok
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 06351, South Korea Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Seeman, Pavel
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic
Univ Hosp Motol, Prague 15006, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

Shy, Michael E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic

论文数: 引用数:
h-index:
机构:

Zuchner, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague 15006, Czech Republic
[4]
ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features
[J].
Lin, Zehong
;
Li, Jinliang
;
Ji, Taoyun
;
Wu, Ye
;
Gao, Kai
;
Jiang, Yuwu
.
FRONTIERS IN PEDIATRICS,
2021, 9

Lin, Zehong
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China

Li, Jinliang
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China

Ji, Taoyun
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China

Wu, Ye
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China

Gao, Kai
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China

Jiang, Yuwu
论文数: 0 引用数: 0
h-index: 0
机构:
Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China
[5]
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
[J].
Schlingmann, Karl P.
;
Bandulik, Sascha
;
Mammen, Cherry
;
Tarailo-Graovac, Maja
;
Holm, Rikke
;
Baumann, Matthias
;
Koenig, Jens
;
Lee, Jessica J. Y.
;
Drogemoller, Britt
;
Imminger, Katrin
;
Beck, Bodo B.
;
Altmueller, Janine
;
Thiele, Holger
;
Waldegger, Siegfried
;
van't Hoff, William
;
Kleta, Robert
;
Warth, Richard
;
van Karnebeek, Clara D. M.
;
Vilsen, Bente
;
Bockenhauer, Detlef
;
Konrad, Martin
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2018, 103 (05)
:808-816

Schlingmann, Karl P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Bandulik, Sascha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, Med Cell Biol, D-93053 Regensburg, Germany Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Mammen, Cherry
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Div Nephrol, Dept Pediat, Vancouver, BC V6H 3V4, Canada Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Tarailo-Graovac, Maja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Dept Biochem, Calgary, AB T2N 1N4, Canada
Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Dept Mol Biol, Calgary, AB T2N 1N4, Canada
Univ Calgary, Alberta Childrens Hosp Res Inst, Cumming Sch Med, Dept Med Genet, Calgary, AB T2N 1N4, Canada Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Holm, Rikke
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Baumann, Matthias
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Dept Pediat 1, A-6020 Innsbruck, Austria Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Koenig, Jens
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Lee, Jessica J. Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Ctr Mol Med & Therapeut, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Drogemoller, Britt
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Ctr Mol Med & Therapeut, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Imminger, Katrin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Regensburg, Med Cell Biol, D-93053 Regensburg, Germany Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Beck, Bodo B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany
Ctr Mol Med Cologne, D-50931 Cologne, Germany
Ctr Rare & Hereditary Kidney Dis, D-50931 Cologne, Germany Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Altmueller, Janine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

论文数: 引用数:
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机构:

Waldegger, Siegfried
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Dept Pediat 1, A-6020 Innsbruck, Austria Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

van't Hoff, William
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Dept Pediat Nephrol, London WC1N 3JH, England Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Kleta, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Dept Pediat Nephrol, London WC1N 3JH, England
UCL Ctr Nephrol, London NW3 2PF, England Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

论文数: 引用数:
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机构:

van Karnebeek, Clara D. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Pediat, Ctr Mol Med & Therapeut, Vancouver, BC V6T 1Z3, Canada
Univ Amsterdam, Med Ctr, Dept Pediat, NL-1007 Amsterdam, Netherlands
Univ Amsterdam, Med Ctr, Dept Clin Genet, NL-1007 Amsterdam, Netherlands Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Vilsen, Bente
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Bockenhauer, Detlef
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Children NHS Fdn Trust, Dept Pediat Nephrol, London WC1N 3JH, England
UCL Ctr Nephrol, London NW3 2PF, England Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany

Konrad, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany Univ Childrens Hosp, Dept Gen Pediat, D-48149 Munster, Germany
[6]
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
[J].
Stregapede, Fabrizia
;
Travaglini, Lorena
;
Rebelo, Adriana P.
;
Cintra, Vivian Pedigone
;
Bellacchio, Emanuele
;
Bosco, Luca
;
Alfieri, Paolo
;
Pro, Stefano
;
Zuchner, Stephan
;
Bertini, Enrico
;
Nicita, Francesco
.
CLINICAL GENETICS,
2020, 97 (03)
:521-526

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Travaglini, Lorena
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IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Rebelo, Adriana P.
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Univ Miami, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL USA IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Cintra, Vivian Pedigone
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Univ Sao Paulo, Ribeirao Preto Sch Med, Ribeirao Preto, SP, Brazil IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Bellacchio, Emanuele
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IRCCS Bambino Gesu Childrens Hosp, Genet & Rare Dis Res Div, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Bosco, Luca
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IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Alfieri, Paolo
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IRCCS Bambino Gesu Childrens Hosp, Unit Child Neuropsychiat, Dept Neurosci, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Pro, Stefano
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IRCCS Bambino Gesu Childrens Hosp, Unit Neurophysiol, Dept Neurosci, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Zuchner, Stephan
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机构:
Univ Miami, John P Hussman Inst Human Genom, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL USA IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Bertini, Enrico
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IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy

Nicita, Francesco
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IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy IRCCS Bambino Gesu Childrens Hosp, Unit Neuromuscular & Neurodegenerat Dis, Dept Neurosci, Rome, Italy