Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Y Murakami; TTM Nguyen; N Baratang; PK Raju; A Knaus; S Ellard; G Jones; B Lace; J Rousseau; NF Ajeawung; A Kamei; G Minase; M Akasaka; N Araya; E Koshimizu; J Ende; F Erger; J Altmuller; Z Krumina; J Strautmanis; I Inashkina; J Stavusis; A El-Gharbawy; J Sebastian; RD Puri; S Kulshrestha; IC Verma; EM Maier; TB Haack; A Israni; J Baptista; A Gunning; JA Rosenfeld; PF Liu; Marieke Joosten; ME Rocha; MO Hashem; HM Aldhalaan; FS Alkuraya; S Miyatake; N Matsumoto; PM Krawitz; E Rossignol; T Kinoshita; PM Campeau

doi:10.1016/j.ajhg.2019.05.019

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, G Jones, B Lace, J Rousseau, NF Ajeawung, A Kamei, G Minase, M Akasaka, N Araya, E Koshimizu, J Ende, F Erger, J Altmuller, Z Krumina, J StrautmanisI Inashkina, J Stavusis, A El-Gharbawy, J Sebastian, RD Puri, S Kulshrestha, IC Verma, EM Maier, TB Haack, A Israni, J Baptista, A Gunning, JA Rosenfeld, PF Liu, Marieke Joosten, ME Rocha, MO Hashem, HM Aldhalaan, FS Alkuraya, S Miyatake, N Matsumoto, PM Krawitz, E Rossignol, T Kinoshita, PM Campeau

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

46 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	384-394
Number of pages	11
Journal	American Journal of Human Genetics
Volume	105
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2019.05.019
Publication status	Published - 2019

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EMC OR-01

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10.1016/j.ajhg.2019.05.019

http://hdl.handle.net/1765/118508

Cite this

Murakami, Y., Nguyen, TTM., Baratang, N., Raju, PK., Knaus, A., Ellard, S., Jones, G., Lace, B., Rousseau, J., Ajeawung, NF., Kamei, A., Minase, G., Akasaka, M., Araya, N., Koshimizu, E., Ende, J., Erger, F., Altmuller, J., Krumina, Z., ... Campeau, PM. (2019). Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. American Journal of Human Genetics, 105(2), 384-394. https://doi.org/10.1016/j.ajhg.2019.05.019

@article{66df1b7ea0d240c4a2f5f93107ccb142,

title = "Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases",

author = "Y Murakami and TTM Nguyen and N Baratang and PK Raju and A Knaus and S Ellard and G Jones and B Lace and J Rousseau and NF Ajeawung and A Kamei and G Minase and M Akasaka and N Araya and E Koshimizu and J Ende and F Erger and J Altmuller and Z Krumina and J Strautmanis and I Inashkina and J Stavusis and A El-Gharbawy and J Sebastian and RD Puri and S Kulshrestha and IC Verma and EM Maier and TB Haack and A Israni and J Baptista and A Gunning and JA Rosenfeld and PF Liu and Marieke Joosten and ME Rocha and MO Hashem and HM Aldhalaan and FS Alkuraya and S Miyatake and N Matsumoto and PM Krawitz and E Rossignol and T Kinoshita and PM Campeau",

year = "2019",

doi = "10.1016/j.ajhg.2019.05.019",

language = "Undefined/Unknown",

volume = "105",

pages = "384--394",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

Murakami, Y, Nguyen, TTM, Baratang, N, Raju, PK, Knaus, A, Ellard, S, Jones, G, Lace, B, Rousseau, J, Ajeawung, NF, Kamei, A, Minase, G, Akasaka, M, Araya, N, Koshimizu, E, Ende, J, Erger, F, Altmuller, J, Krumina, Z, Strautmanis, J, Inashkina, I, Stavusis, J, El-Gharbawy, A, Sebastian, J, Puri, RD, Kulshrestha, S, Verma, IC, Maier, EM, Haack, TB, Israni, A, Baptista, J, Gunning, A, Rosenfeld, JA, Liu, PF, Joosten, M, Rocha, ME, Hashem, MO, Aldhalaan, HM, Alkuraya, FS, Miyatake, S, Matsumoto, N, Krawitz, PM, Rossignol, E, Kinoshita, T & Campeau, PM 2019, 'Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases', American Journal of Human Genetics, vol. 105, no. 2, pp. 384-394. https://doi.org/10.1016/j.ajhg.2019.05.019

TY - JOUR

T1 - Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

AU - Murakami, Y

AU - Nguyen, TTM

AU - Baratang, N

AU - Raju, PK

AU - Knaus, A

AU - Ellard, S

AU - Jones, G

AU - Lace, B

AU - Rousseau, J

AU - Ajeawung, NF

AU - Kamei, A

AU - Minase, G

AU - Akasaka, M

AU - Araya, N

AU - Koshimizu, E

AU - Ende, J

AU - Erger, F

AU - Altmuller, J

AU - Krumina, Z

AU - Strautmanis, J

AU - Inashkina, I

AU - Stavusis, J

AU - El-Gharbawy, A

AU - Sebastian, J

AU - Puri, RD

AU - Kulshrestha, S

AU - Verma, IC

AU - Maier, EM

AU - Haack, TB

AU - Israni, A

AU - Baptista, J

AU - Gunning, A

AU - Rosenfeld, JA

AU - Liu, PF

AU - Joosten, Marieke

AU - Rocha, ME

AU - Hashem, MO

AU - Aldhalaan, HM

AU - Alkuraya, FS

AU - Miyatake, S

AU - Matsumoto, N

AU - Krawitz, PM

AU - Rossignol, E

AU - Kinoshita, T

AU - Campeau, PM

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.05.019

DO - 10.1016/j.ajhg.2019.05.019

M3 - Article

C2 - 31256876

SN - 0002-9297

VL - 105

SP - 384

EP - 394

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -