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

Yoshiko Murakami; Thi Tuyet Mai Nguyen; Nissan Baratang; Praveen K. Raju; Alexej Knaus; Sian Ellard; Gabriela Jones; B. Lace; Justine Rousseau; Norbert Fonya Ajeawung; Atsushi Kamei; Gaku Minase; Manami Akasaka; Nami Araya; E. Koshimizu; den Ende J van; Florian Erger; Janine Altmüller; Zita Krumina; Jurgis Strautmanis; Inna Inashkina; J. Stavusis; A. El-Gharbawy; Jessica Sebastian; Ratna Dua Puri; Samarth Kulshrestha; Ishwar C. Verma; Esther M. Maier; Tobias B. Haack; Anil Israni; J. Baptista; Adam Gunning; Jill A. Rosenfeld; Pengfei Liu; Marieke Joosten; María Eugenia Rocha; Mais O. Hashem; Hesham M. Aldhalaan; Fowzan S. Alkuraya; Satoko Miyatake; Naomichi Matsumoto; Peter M. Krawitz; Elsa Rossignol; T. Kinoshita; Philippe M. 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

Yoshiko Murakami
, Thi Tuyet Mai Nguyen
, Nissan Baratang
, Praveen K. Raju
, Alexej Knaus
, Sian Ellard
, Gabriela Jones
, B. Lace
, Justine Rousseau
, Norbert Fonya Ajeawung
, Atsushi Kamei
, Gaku Minase
, Manami Akasaka
, Nami Araya
, E. Koshimizu
, den Ende J van
, Florian Erger
, Janine Altmüller
, Zita Krumina
, Jurgis Strautmanis

Inna Inashkina, J. Stavusis, A. El-Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, J. Baptista, Adam Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais O. Hashem, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter M. Krawitz, Elsa Rossignol, T. Kinoshita, Philippe M. Campeau^*

^*Corresponding author for this work

Peninsula Medical School

Osaka University
University of Montreal
University of Bonn
Royal Devon & Exeter NHS Foundation Trust
Nottingham University Hospitals NHS Trust
Université Laval
Iwate Medical University
Yokohama City University
University of Cologne
Riga Stradins University
Children's Clinical University Hospital
Latvian Biomedical Research and Study Centre
University of Pittsburgh
Sir Ganga Ram Hospital
Ludwig Maximilian University of Munich
Technical University of Munich
University of Tübingen
Leicester Royal Infirmary
Baylor College of Medicine
Erasmus University Rotterdam
Centogene AG
Alfaisal University

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

Original language	English
Pages (from-to)	384-394
Number of pages	0
Journal	The American Journal of Human Genetics
Volume	105
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2019.05.019
Publication status	Published - Aug 2019

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10.1016/j.ajhg.2019.05.019

Cite this

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

@article{6b9f242eef6e40d38cd4344cd36e6012,

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

author = "Yoshiko Murakami and Nguyen, \{Thi Tuyet Mai\} and Nissan Baratang and Raju, \{Praveen K.\} and Alexej Knaus and Sian Ellard and Gabriela Jones and B. Lace and Justine Rousseau and Ajeawung, \{Norbert Fonya\} and Atsushi Kamei and Gaku Minase and Manami Akasaka and Nami Araya and E. Koshimizu and van, \{den Ende J\} and Florian Erger and Janine Altm{\"u}ller and Zita Krumina and Jurgis Strautmanis and Inna Inashkina and J. Stavusis and A. El-Gharbawy and Jessica Sebastian and Puri, \{Ratna Dua\} and Samarth Kulshrestha and Verma, \{Ishwar C.\} and Maier, \{Esther M.\} and Haack, \{Tobias B.\} and Anil Israni and J. Baptista and Adam Gunning and Rosenfeld, \{Jill A.\} and Pengfei Liu and Marieke Joosten and Rocha, \{Mar{\'i}a Eugenia\} and Hashem, \{Mais O.\} and Aldhalaan, \{Hesham M.\} and Alkuraya, \{Fowzan S.\} and Satoko Miyatake and Naomichi Matsumoto and Krawitz, \{Peter M.\} and Elsa Rossignol and T. Kinoshita and Campeau, \{Philippe M.\}",

year = "2019",

month = aug,

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

language = "English",

volume = "105",

pages = "384--394",

journal = "The 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, van, DEJ, Erger, F, Altmüller, 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, P, 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', The 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, Yoshiko

AU - Nguyen, Thi Tuyet Mai

AU - Baratang, Nissan

AU - Raju, Praveen K.

AU - Knaus, Alexej

AU - Ellard, Sian

AU - Jones, Gabriela

AU - Lace, B.

AU - Rousseau, Justine

AU - Ajeawung, Norbert Fonya

AU - Kamei, Atsushi

AU - Minase, Gaku

AU - Akasaka, Manami

AU - Araya, Nami

AU - Koshimizu, E.

AU - van, den Ende J

AU - Erger, Florian

AU - Altmüller, Janine

AU - Krumina, Zita

AU - Strautmanis, Jurgis

AU - Inashkina, Inna

AU - Stavusis, J.

AU - El-Gharbawy, A.

AU - Sebastian, Jessica

AU - Puri, Ratna Dua

AU - Kulshrestha, Samarth

AU - Verma, Ishwar C.

AU - Maier, Esther M.

AU - Haack, Tobias B.

AU - Israni, Anil

AU - Baptista, J.

AU - Gunning, Adam

AU - Rosenfeld, Jill A.

AU - Liu, Pengfei

AU - Joosten, Marieke

AU - Rocha, María Eugenia

AU - Hashem, Mais O.

AU - Aldhalaan, Hesham M.

AU - Alkuraya, Fowzan S.

AU - Miyatake, Satoko

AU - Matsumoto, Naomichi

AU - Krawitz, Peter M.

AU - Rossignol, Elsa

AU - Kinoshita, T.

AU - Campeau, Philippe M.

PY - 2019/8

Y1 - 2019/8

U2 - 10.1016/j.ajhg.2019.05.019

DO - 10.1016/j.ajhg.2019.05.019

M3 - Article

SN - 0002-9297

VL - 105

SP - 384

EP - 394

JO - The American Journal of Human Genetics

JF - The American Journal of Human Genetics

IS - 2

ER -