Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

Ralf A Husain; Mona Grimmel; Matias Wagner; J Christopher Hennings; Christian Marx; René Feichtinger; Abdelkrim Saadi; Kevin Rostásy; Florentine Radelfahr; Andrea Bevot; Marion Döbler-Neumann; Hans Hartmann; Laurence Colleaux; Isabell Cordts; Xenia Kobeleva; Hossein Darvish; Somayeh Bakhtiari; Michael C Kruer; Arnaud Besse; Andy Cheuk-Him Ng; Diana Chiang; Francois Bolduc; Abbas Tafakhori; Shrikant Mane; Saghar Ghasemi Firouzabadi; Antje K Huebner; Rebecca Buchert; Stefanie Beck-Woedl; Amelie J Müller; Lucia Laugwitz; Thomas Nägele; Zhao-Qi Wang; Tim M Strom; Marc Sturm; Thomas Meitinger; Thomas Klockgether; Olaf Riess; Thomas Klopstock; Ulrich Brandl; Christian A Hübner; Marcus Deschauer; Johannes A. Mayr; Penelope E Bonnen; Ingeborg Krägeloh-Mann; Saskia Wortmann; Tobias B Haack

doi:10.1016/j.ajhg.2020.06.015

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

Ralf A Husain
, Mona Grimmel
, Matias Wagner
, J Christopher Hennings
, Christian Marx
, René Feichtinger (Co-author)
, Abdelkrim Saadi
, Kevin Rostásy
, Florentine Radelfahr
, Andrea Bevot
, Marion Döbler-Neumann
, Hans Hartmann
, Laurence Colleaux
, Isabell Cordts
, Xenia Kobeleva
, Hossein Darvish
, Somayeh Bakhtiari
, Michael C Kruer
, Arnaud Besse
, Andy Cheuk-Him Ng

Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A. Mayr (Co-author), Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia Wortmann (Co-author), Tobias B Haack

Department of Pediatrics

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

47 Citations (Web of Science)

Original language	English
Pages (from-to)	364-373
Journal	AMERICAN JOURNAL OF HUMAN GENETICS
Volume	107
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2020.06.015
Publication status	Published - 2020

Keywords

MUTATIONS

Access to Document

10.1016/j.ajhg.2020.06.015

Pediatric developmental disorders – from gene to tailored treatment
Wortmann, S. (PI)
1/10/20 → 1/10/21
Project: Research
Pediatric developmental disorders – from gene to tailored treatment Kindliche Entwicklungsstörung – vom Gendefekt zur maßgeschneiderten Behandlung
Wortmann, S. (PI)
1/01/19 → 1/01/22
Project: Research

Cite this

Husain, R. A., Grimmel, M., Wagner, M., Hennings, J. C., Marx, C., Feichtinger, R., Saadi, A., Rostásy, K., Radelfahr, F., Bevot, A., Döbler-Neumann, M., Hartmann, H., Colleaux, L., Cordts, I., Kobeleva, X., Darvish, H., Bakhtiari, S., Kruer, M. C., Besse, A., ... Haack, T. B. (2020). Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. AMERICAN JOURNAL OF HUMAN GENETICS , 107(2), 364-373. https://doi.org/10.1016/j.ajhg.2020.06.015

Husain, Ralf A ; Grimmel, Mona ; Wagner, Matias et al. / Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. In: AMERICAN JOURNAL OF HUMAN GENETICS 2020 ; Vol. 107, No. 2. pp. 364-373.

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title = "Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.",

keywords = "MUTATIONS",

author = "Husain, \{Ralf A\} and Mona Grimmel and Matias Wagner and Hennings, \{J Christopher\} and Christian Marx and Ren{\'e} Feichtinger and Abdelkrim Saadi and Kevin Rost{\'a}sy and Florentine Radelfahr and Andrea Bevot and Marion D{\"o}bler-Neumann and Hans Hartmann and Laurence Colleaux and Isabell Cordts and Xenia Kobeleva and Hossein Darvish and Somayeh Bakhtiari and Kruer, \{Michael C\} and Arnaud Besse and Ng, \{Andy Cheuk-Him\} and Diana Chiang and Francois Bolduc and Abbas Tafakhori and Shrikant Mane and \{Ghasemi Firouzabadi\}, Saghar and Huebner, \{Antje K\} and Rebecca Buchert and Stefanie Beck-Woedl and M{\"u}ller, \{Amelie J\} and Lucia Laugwitz and Thomas N{\"a}gele and Zhao-Qi Wang and Strom, \{Tim M\} and Marc Sturm and Thomas Meitinger and Thomas Klockgether and Olaf Riess and Thomas Klopstock and Ulrich Brandl and H{\"u}bner, \{Christian A\} and Marcus Deschauer and Mayr, \{Johannes A.\} and Bonnen, \{Penelope E\} and Ingeborg Kr{\"a}geloh-Mann and Saskia Wortmann and Haack, \{Tobias B\}",

note = "Feichtinger; Wortmann; Mayr: University Children{\textquoteright}s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria",

year = "2020",

doi = "10.1016/j.ajhg.2020.06.015",

language = "English",

volume = "107",

pages = "364--373",

journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",

issn = "0002-9297",

publisher = "Elsevier ",

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}

Husain, RA, Grimmel, M, Wagner, M, Hennings, JC, Marx, C, Feichtinger, R, Saadi, A, Rostásy, K, Radelfahr, F, Bevot, A, Döbler-Neumann, M, Hartmann, H, Colleaux, L, Cordts, I, Kobeleva, X, Darvish, H, Bakhtiari, S, Kruer, MC, Besse, A, Ng, AC-H, Chiang, D, Bolduc, F, Tafakhori, A, Mane, S, Ghasemi Firouzabadi, S, Huebner, AK, Buchert, R, Beck-Woedl, S, Müller, AJ, Laugwitz, L, Nägele, T, Wang, Z-Q, Strom, TM, Sturm, M, Meitinger, T, Klockgether, T, Riess, O, Klopstock, T, Brandl, U, Hübner, CA, Deschauer, M, Mayr, JA, Bonnen, PE, Krägeloh-Mann, I, Wortmann, S & Haack, TB 2020, 'Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.', AMERICAN JOURNAL OF HUMAN GENETICS , vol. 107, no. 2, pp. 364-373. https://doi.org/10.1016/j.ajhg.2020.06.015

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. / Husain, Ralf A; Grimmel, Mona; Wagner, Matias et al.
In: AMERICAN JOURNAL OF HUMAN GENETICS , Vol. 107, No. 2, 2020, p. 364-373.

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

TY - JOUR

T1 - Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

AU - Husain, Ralf A

AU - Grimmel, Mona

AU - Wagner, Matias

AU - Hennings, J Christopher

AU - Marx, Christian

AU - Feichtinger, René

AU - Saadi, Abdelkrim

AU - Rostásy, Kevin

AU - Radelfahr, Florentine

AU - Bevot, Andrea

AU - Döbler-Neumann, Marion

AU - Hartmann, Hans

AU - Colleaux, Laurence

AU - Cordts, Isabell

AU - Kobeleva, Xenia

AU - Darvish, Hossein

AU - Bakhtiari, Somayeh

AU - Kruer, Michael C

AU - Besse, Arnaud

AU - Ng, Andy Cheuk-Him

AU - Chiang, Diana

AU - Bolduc, Francois

AU - Tafakhori, Abbas

AU - Mane, Shrikant

AU - Ghasemi Firouzabadi, Saghar

AU - Huebner, Antje K

AU - Buchert, Rebecca

AU - Beck-Woedl, Stefanie

AU - Müller, Amelie J

AU - Laugwitz, Lucia

AU - Nägele, Thomas

AU - Wang, Zhao-Qi

AU - Strom, Tim M

AU - Sturm, Marc

AU - Meitinger, Thomas

AU - Klockgether, Thomas

AU - Riess, Olaf

AU - Klopstock, Thomas

AU - Brandl, Ulrich

AU - Hübner, Christian A

AU - Deschauer, Marcus

AU - Mayr, Johannes A.

AU - Bonnen, Penelope E

AU - Krägeloh-Mann, Ingeborg

AU - Wortmann, Saskia

AU - Haack, Tobias B

N1 - Feichtinger; Wortmann; Mayr: University Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria

PY - 2020

Y1 - 2020

KW - MUTATIONS

U2 - 10.1016/j.ajhg.2020.06.015

DO - 10.1016/j.ajhg.2020.06.015

M3 - Original Article

C2 - 32707086

SN - 0002-9297

VL - 107

SP - 364

EP - 373

JO - AMERICAN JOURNAL OF HUMAN GENETICS

JF - AMERICAN JOURNAL OF HUMAN GENETICS

IS - 2

ER -

Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger R et al. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. AMERICAN JOURNAL OF HUMAN GENETICS . 2020;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

Keywords

Access to Document

Projects

Pediatric developmental disorders – from gene to tailored treatment

Pediatric developmental disorders – from gene to tailored treatment Kindliche Entwicklungsstörung – vom Gendefekt zur maßgeschneiderten Behandlung

Cite this