GENES GENOM 2020 10.1007/s13258-020-00933-9
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy
Lee1, AJ; Nam, DE; Choi, YJ; Nam, SH; Choi, BO; Chung, KW

GLIA 2020 10.1002/glia.23805
Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system
Song1, GJ; Gupta, DP; Rahman, MH; Park, HT; Al Ghouleh, I; Bisello, A; Lee, MG; Park, JY; Park, HH; Jun, JH; Chung, KW; Choi, BO; Suk, K

EMBO REP 2020 10.15252/embr.201948290
CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation
Ki1, SM; Kim, JH; Won, SY; Oh, SJ; Lee, IY; Bae, YK; Chung, KW; Choi, BO; Park, B; Choi, EJ; Lee, JE

BIOCHEM BIOPH RES CO 2020 10.1016/j.bbrc.2019.10.110
Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila
Kang1, KH; Han, JE; Hong, YB; Nam, SH; Choi, BO; Koh, H

NUCLEIC ACIDS RES 2020 10.1093/nar/gkz1070
Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice
Lee1, JS; Lee, JY; Song, DW; Bae, HS; Doo, HM; Yu, HS; Lee, KJ; Kim, HK; Hwang, H; Kwak, G; Kim, D; Kim, S; Hong, YB; Lee, JM; Choi, BO

Genes & genomics / 2019 Sep;41(9):993-1000
Zebrafish is a central model to dissect the peripheral neuropathy
Won SY11, Choi BO2, Chung KW3, Lee JE4,5.

Journal of neuromuscular diseases / 2019;6(2):201-211
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study
Tao F11, Beecham GW1, Rebelo AP1, Blanton SH1, Moran JJ2, Lopez-Anido C2, Svaren J2, Abreu L1, Rizzo D3, Kirk CA3, Wu X4, Feely S4, Verhamme C5, Saporta MA6, Herrmann DN7, Day JW8, Sumner CJ9,10, Lloyd TE9,10, Li J11, Yum SW12, Taroni F13, Baas F14, Choi BO15, Pareyson D13, Scherer SS16, Reilly MM17, Shy ME4, Z?chner S1; Inherited Neuropathy Consortium.

Annals of neurology/ 2019 Jul;86(1):55-67
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D11, Stojkovic T2, Reilly MM3, Leonard-Louis S2, Laur? M3, Blake J3,4, Parman Y5, Battaloglu E6, Tazir M7, Bellatache M7, Bonello-Palot N8, L?vy N8, Sacconi S9, Guimar?es-Costa R2, Attarian S10, Latour P11, Sol? G12, Megarbane A13,14, Horvath R15,16, Ricci G15,17, Choi BO18, Schenone A19, Gemelli C19, Geroldi A19, Sabatelli M20,21, Luigetti M21,22, Santoro L23, Manganelli F23, Quattrone A24, Valentino P24, Murakami T25, Scherer SS26, Dankwa L26, Shy ME27, Bacon CJ27, Herrmann DN28, Zambon A29, Tramacere I30, Pisciotta C1, Magri S31, Previtali SC29, Bolino A29.

Neurogenetics/ 2019 Aug;20(3):117-127
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family
Tey S11, Shahrizaila N2, Drew AP3,4, Samulong S1, Goh KJ2, Battaloglu E5, Atkinson D6, Parman Y7, Jordanova A6, Chung KW8, Choi BO9, Li YC10, Auer-Grumbach M11, Nicholson GA3,4,12, Kennerson ML13,14,15, Ahmad-Annuar A16.

Journal of cachexia, sarcopenia and muscle / 2019 Jun;10(3):574-585
Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie-Tooth disease patients and volunteers
Kim HS11, Yoon YC1, Choi BO2, Jin W3, Cha JG4

Stroke / 2019 Dec;50(12):3545-3552
Training for Walking Efficiency With a Wearable Hip-Assist Robot in Patients With Stroke: A Pilot Randomized Controlled Trial
Lee HJ11,2, Lee SH1, Seo K3, Lee M3, Chang WH1, Choi BO4, Ryu GH5, Kim YH1,6.

Annals of clinical and translational neurology / 2019 Jul;6(7):1292-1301
p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies
Kim YH11, Kim YH2, Shin YK1, Jo YR1, Park DK2, Song MY2, Yoon BA1,3, Nam SH4, Kim JH5, Choi BO4,6, Shin HY7, Kim SW7, Kim SH8, Hong YB9, Kim JK1,3, Park HT1,10.

Scientific reports / 2019 Nov 11;9(1):16535
Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy
Kim YH11, Jang SY1, Shin YK1, Jo YR1, Yoon BA1,2,3, Nam SH4, Choi BO4,5, Shin HY6, Kim SW6, Kim SH7, Kim JK8,9, Park HT10,11.

STROKE 2019 10.1161/STROKEAHA.119.025950
Training for Walking Efficiency With a Wearable Hip-Assist Robot in Patients With Stroke: A Pilot Randomized Controlled Trial
Lee1, HJ; Lee, SH; Seo, K; Lee, M; Chang, WH; Choi, BO; Ryu, GH; Kim, YH

SCI REP-UK 2019 10.1038/s41598-019-52643-2
Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy
Kim1, YH; Jang, SY; Shin, YK; Jo, YR; Yoon, BA; Nam, SH; Choi, BO; Shin, HY; Kim, SW; Kim, SH; Kim, JK; Park, HT

J HUM GENET 2019 10.1038/s10038-019-0636-y
Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients
Lee1, AJ; Nam, SH; Park, JM; Kanwal, S; Choi, YJ; Lee, HJ; Lee, KS; Lee, JE; Park, JS; Choi, BO; Chung, KW

GENES GENOM 2019 10.1007/s13258-019-00838-2
Zebrafish is a central model to dissect the peripheral neuropathy
Won1, SY; Choi, BO; Chung, KW; Lee, JE

ACTA BIOMATER 2019 10.1016/j.actbio.2018.12.011
Nanotopographical regulation of pancreatic islet-like cluster formation from human pluripotent stem cells using a gradient-pattern chip
Kim1, JH; Park, BG; Kim, SK; Lee, DH; Lee, GG; Kim, DH; Choi, BO; Lee, KB; Kim, JH

NEUROGENETICS 2019 10.1007/s10048-019-00576-3
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family
Tey1, S; Shahrizaila, N; Drew, AP; Samulong, S; Goh, KJ; Battaloglu, E; Atkinson, D; Parman, Y; Jordanova, A; Chung, KW; Choi, BO; Li, YC; Auer-Grumbach, M; Nicholson, GA; Kennerson, ML; Ahmad-Annuar, A

ANN CLIN TRANSL NEUR 2019 10.1002/acn3.50828
p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies
Kim1, YH; Kim, YH; Shin, YK; Jo, YR; Park, DK; Song, MY; Yoon, BA; Nam, SH; Kim, JH; Choi, BO; Shin, H; Kim, SW; Kim, SH; Hong, YB; Kim, JK; Park, HT

ANN NEUROL 2019 10.1002/ana.25500
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
Pareyson1, D; Stojkovic, T; Reilly, MM; Leonard-Louis, S; Laura, M; Blake, J; Parman, Y; Battaloglu, E; Tazir, M; Bellatache, M; Bonello-Palot, N; Levy, N; Sacconi, S; Guimaraes-Costa, R; Attarian, S; Latour, P; Sole, G; Megarbane, A; Horvath, R; Ricci, G; Choi, BO; Schenone, A; Gemelli, C; Geroldi, A; Sabatelli, M; Luigetti, M; Santoro, L; Manganelli, F; Quattrone, A; Valentino, P; Murakami, T; Scherer, SS; Dankwa, L; Shy, ME; Bacon, CJ; Herrmann, DN; Zambon, A; Tramacere, I; Pisciotta, C; Magri, S; Previtali, SC; Bolino, A

J CLIN NEUROL 2019 10.3988/jcn.2019.15.3.418
A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
Lee1, SJ; Kanwal, S; Yoo, DH; Park, HR; Choi, BO; Chung, KW

INT J MOL MED 2019 10.3892/ijmm.2019.4178
Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations
Chang1, EH; Mo, WM; Doo, HM; Lee, JS; Park, HT; Choi, BO; Hong, YB

EUR RADIOL 2019 10.1007/s00330-018-5958-1
Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study
Kim1, HS; Yoon, YC; Choi, BO; Jin, W; Cha, JG; Kim, JH

J CACHEXIA SARCOPENIA MUSCLE 2019 10.1002/jcsm.12415
Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie-Tooth disease patients and volunteers
Kim1, HS; Yoon, YC; Choi, BO; Jin, W; Cha, JG

Exp Neurobiol 2019 10.5607/en.2019.28.2.279
miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22
Lee1, JS; Kwak, G; Kim, HJ; Park, HT; Choi, BO; Hong, YB

ANN NEUROL 2019 10.1002/ana.25426
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A
Tao1, FF; Beecham, GW; Rebelo, AP; Svaren, J; Blanton, SH; Moran, JJ; Lopez-Anido, C; Morrow, JM; Abreu, L; Rizzo, D; Kirk, CA; Wu, XY; Feely, S; Verhamme, C; Saporta, MA; Herrmann, DN; Day, JW; Sumner, CJ; Lloyd, TE; Li, J; Yum, SW; Taroni, F; Baas, F; Choi, BO; Pareyson, D; Scherer, SS; Reilly, MM; Shy, ME; Zuchner, S; Lewis, R; Acsadi, G; Finkel, R; Fridman, V; Ramchandren, S; Walk, D; Logigian, E; Stanton, M; Eichinger, K; Guntrum, D; Gibson, C; Burns, J; Moroni, I; Pisciotta, C; Laura, M; Muntoni, F; Sowden, JE; Mountain, J; Bai, YH; Bacon, C; Gutmann, L; Grider, T; Phetteplace, J; Seyedsadjadi, R; Houlden, H; Cortese, A; Pandraud, A; Calabrese, D; Saveri, P; Richardson, J; Dankwa, L; Lee, D; Siskind, C; Maciel, R; Bis, D

NEUROMUSCULAR DISORD 2019
Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population - response
Choi1, BO; Nam, SH; Chung, KW
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