共 54 条
[1]
[Anonymous], 2015, Nature, DOI DOI 10.1038/NATURE15393
[2]
[Anonymous], 2020, NATURE, DOI DOI 10.1038/S41586-020-2308-7
[3]
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
[J].
Antoniadi, Thalia
;
Buxton, Chris
;
Dennis, Gemma
;
Forrester, Natalie
;
Smith, Debbie
;
Lunt, Peter
;
Burton-Jones, Sarah
.
BMC MEDICAL GENETICS,
2015, 16

Antoniadi, Thalia
论文数: 0 引用数: 0
h-index: 0
机构:
North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England

Buxton, Chris
论文数: 0 引用数: 0
h-index: 0
机构:
North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England

Dennis, Gemma
论文数: 0 引用数: 0
h-index: 0
机构:
North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England

Forrester, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England

Smith, Debbie
论文数: 0 引用数: 0
h-index: 0
机构:
North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England

Lunt, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bristol, Dept Social & Community Med, Bristol BS8 2BN, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England

Burton-Jones, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England North Bristol NHS Trust, Southmead Hosp, Bristol Genet Lab, Bristol BS10 5NB, Avon, England
[4]
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
[J].
Bacquet, Juliette
;
Stojkovic, Tanya
;
Boyer, Amandine
;
Martini, Nathalie
;
Audic, Frederique
;
Chabrol, Brigitte
;
Salort-Campana, Emmanuelle
;
Delmont, Emilien
;
Desvignes, Jean-Pierre
;
Verschueren, Annie
;
Attarian, Shahram
;
Chaussenot, Annabelle
;
Delague, Valerie
;
Levy, Nicolas
;
Bonello-Palot, Nathalie
.
BMJ OPEN,
2018, 8 (10)

Bacquet, Juliette
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Stojkovic, Tanya
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, AP HP, Ctr Reference Malad Neuromusculaires, Paris, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Boyer, Amandine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Martini, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Audic, Frederique
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Enfants, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Chabrol, Brigitte
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Enfants, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Salort-Campana, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Adultes, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France
Aix Marseille Univ, INSERM, MMG, UMR 1251, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Delmont, Emilien
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Adultes, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Desvignes, Jean-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, INSERM, MMG, UMR 1251, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Verschueren, Annie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Adultes, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Attarian, Shahram
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Adultes, AP HM, Ctr Reference Malad Neuromusculaires, Marseille, France
Aix Marseille Univ, INSERM, MMG, UMR 1251, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Chaussenot, Annabelle
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nice, Dept Genet Med, Hop Archet 2, Nice, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Delague, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, INSERM, MMG, UMR 1251, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Levy, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France
Aix Marseille Univ, INSERM, MMG, UMR 1251, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France

Bonello-Palot, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France
Aix Marseille Univ, INSERM, MMG, UMR 1251, Marseille, France Hop Timone Enfants, AP HM, Dept Genet Med, Marseille, France
[5]
The mRNA-Bound Proteome and Its Global Occupancy Profile on Protein-Coding Transcripts
[J].
Baltz, Alexander G.
;
Munschauer, Mathias
;
Schwanhaeusser, Bjoern
;
Vasile, Alexandra
;
Murakawa, Yasuhiro
;
Schueler, Markus
;
Youngs, Noah
;
Penfold-Brown, Duncan
;
Drew, Kevin
;
Milek, Miha
;
Wyler, Emanuel
;
Bonneau, Richard
;
Selbach, Matthias
;
Dieterich, Christoph
;
Landthaler, Markus
.
MOLECULAR CELL,
2012, 46 (05)
:674-690

Baltz, Alexander G.
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Munschauer, Mathias
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Schwanhaeusser, Bjoern
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Vasile, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Murakawa, Yasuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Schueler, Markus
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Youngs, Noah
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Dept Biol, Ctr Genom & Syst Biol, New York, NY 10003 USA Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Penfold-Brown, Duncan
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Dept Biol, Ctr Genom & Syst Biol, New York, NY 10003 USA Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Drew, Kevin
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Dept Biol, Ctr Genom & Syst Biol, New York, NY 10003 USA Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Milek, Miha
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Wyler, Emanuel
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Bonneau, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Dept Biol, Ctr Genom & Syst Biol, New York, NY 10003 USA Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Selbach, Matthias
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Dieterich, Christoph
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany

Landthaler, Markus
论文数: 0 引用数: 0
h-index: 0
机构:
Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med, D-13125 Berlin, Germany
[6]
Bonne Gisele, 2018, Neuromuscul Disord, V28, P1031, DOI 10.1016/j.nmd.2018.09.006
[7]
A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14
[J].
Choi, Byung-Ok
;
Kang, Sung Hee
;
Hyun, Young Se
;
Kanwal, Sumaria
;
Park, Sun Wha
;
Koo, Heasoo
;
Kim, Sang-Beom
;
Choi, Young-Chul
;
Yoo, Jeong Hyun
;
Kim, Jong-Won
;
Park, Kee Duk
;
Choi, Kyoung-Gyu
;
Kim, Song Ja
;
Zuechner, Stephan
;
Chung, Ki Wha
.
HUMAN MUTATION,
2011, 32 (06)
:669-677

Choi, Byung-Ok
论文数: 0 引用数: 0
h-index: 0
机构:
Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Kang, Sung Hee
论文数: 0 引用数: 0
h-index: 0
机构:
Kongju Natl Univ, Dept Biol Sci, Gongju, Chungnam, South Korea
Kongju Natl Univ, Biotechnol Res Ctr, Gongju, Chungnam, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Hyun, Young Se
论文数: 0 引用数: 0
h-index: 0
机构:
Kongju Natl Univ, Dept Biol Sci, Gongju, Chungnam, South Korea
Kongju Natl Univ, Biotechnol Res Ctr, Gongju, Chungnam, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Kanwal, Sumaria
论文数: 0 引用数: 0
h-index: 0
机构:
Kongju Natl Univ, Dept Biol Sci, Gongju, Chungnam, South Korea
Kongju Natl Univ, Biotechnol Res Ctr, Gongju, Chungnam, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Park, Sun Wha
论文数: 0 引用数: 0
h-index: 0
机构:
Kongju Natl Univ, Dept Biol Sci, Gongju, Chungnam, South Korea
Kongju Natl Univ, Biotechnol Res Ctr, Gongju, Chungnam, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Koo, Heasoo
论文数: 0 引用数: 0
h-index: 0
机构:
Ewha Womans Univ, Dept Pathol, Sch Med, Seoul, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Kim, Sang-Beom
论文数: 0 引用数: 0
h-index: 0
机构:
Kyung Hee Univ, Dept Neurol, Sch Med, Seoul, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Choi, Young-Chul
论文数: 0 引用数: 0
h-index: 0
机构:
Yonsei Univ, Coll Med, Dept Neurol, Brain Korea Project Med Sci 21, Seoul, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

论文数: 引用数:
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Kim, Jong-Won
论文数: 0 引用数: 0
h-index: 0
机构:
Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med, Seoul, South Korea
Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Genet, Seoul, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

Park, Kee Duk
论文数: 0 引用数: 0
h-index: 0
机构:
Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

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Zuechner, Stephan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Miami, Miller Sch Med, Hussman Inst Human Genom, Miami, FL 33136 USA Ewha Womans Univ, Dept Neurol, Sch Med, Seoul, South Korea

论文数: 引用数:
h-index:
机构:
[8]
TES is a novel focal adhesion protein with a role in cell spreading
[J].
Coutts, AS
;
MacKenzie, E
;
Griffith, E
;
Black, DM
.
JOURNAL OF CELL SCIENCE,
2003, 116 (05)
:897-906

Coutts, AS
论文数: 0 引用数: 0
h-index: 0
机构:
Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland

MacKenzie, E
论文数: 0 引用数: 0
h-index: 0
机构:
Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland

Griffith, E
论文数: 0 引用数: 0
h-index: 0
机构:
Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland

Black, DM
论文数: 0 引用数: 0
h-index: 0
机构:
Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland Beatson Inst Canc Res, Canc Res UK Labs, Glasgow G61 1BD, Lanark, Scotland
[9]
LIM domains: multiple roles as adapters and functional modifiers in protein interactions
[J].
Dawid, IB
;
Breen, JJ
;
Toyama, R
.
TRENDS IN GENETICS,
1998, 14 (04)
:156-162

Dawid, IB
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Mol Genet Lab, NIH, Bethesda, MD 20892 USA NICHHD, Mol Genet Lab, NIH, Bethesda, MD 20892 USA

Breen, JJ
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Mol Genet Lab, NIH, Bethesda, MD 20892 USA NICHHD, Mol Genet Lab, NIH, Bethesda, MD 20892 USA

Toyama, R
论文数: 0 引用数: 0
h-index: 0
机构:
NICHHD, Mol Genet Lab, NIH, Bethesda, MD 20892 USA NICHHD, Mol Genet Lab, NIH, Bethesda, MD 20892 USA
[10]
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)
[J].
Depondt, Chantal
;
Donatello, Simona
;
Rai, Myriam
;
Wang, Francois Charles
;
Manto, Mario
;
Simonis, Nicolas
;
Pandolfo, Massimo
.
NEUROLOGY-GENETICS,
2016, 2 (05)

Depondt, Chantal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium
Univ Libre Bruxelles, Hop Frasme, Lab Expt Neurol, Brussels, Belgium Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium

Donatello, Simona
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Hop Frasme, Lab Expt Neurol, Brussels, Belgium Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium

Rai, Myriam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Hop Frasme, Lab Expt Neurol, Brussels, Belgium Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium

Wang, Francois Charles
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Liege, Univ Hosp, Dept Phys Med & Rehabil, Liege, Belgium Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium

Manto, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium
Univ Libre Bruxelles, Hop Frasme, Lab Expt Neurol, Brussels, Belgium
Fonds Natl Rech Sci, Brussels, Belgium Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium

Simonis, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Dept Med Genet, Brussels, Belgium Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium

Pandolfo, Massimo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium Univ Libre Bruxelles, Dept Neurol, Brussels, Belgium