SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Benjamin Roeben; Rebecca Schüle; Susanne Ruf; Benjamin Bender; Bader Alhaddad; Tanja Benkert; Thomas Meitinger; Selina Reich; Judith Böhringer; Claus-Dieter Langhans; Frédéric M Vaz; Saskia Wortmann; Thorsten Marquardt; Tobias B Haack; Ingeborg Krägeloh-Mann; Ludger Schöls; Matthis Synofzik

doi:10.1136/jmedgenet-2017-104622

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia Wortmann (Co-author), Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik

Department of Pediatrics

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

27 Citations (Web of Science)

Original language	English
Pages (from-to)	39-47
Journal	JOURNAL OF MEDICAL GENETICS
Volume	55
Issue number	1
DOIs	https://doi.org/10.1136/jmedgenet-2017-104622
Publication status	Published - 2018

Keywords

HEREDITARY SPASTIC PARAPLEGIA
MOTOR-NEURON DEGENERATION
INBORN-ERRORS
BIOSYNTHESIS
DYSTONIA
METABOLISM
DEAFNESS
DISEASE
GENE

Access to Document

10.1136/jmedgenet-2017-104622

Cite this

Roeben, B., Schüle, R., Ruf, S., Bender, B., Alhaddad, B., Benkert, T., Meitinger, T., Reich, S., Böhringer, J., Langhans, C.-D., Vaz, F. M., Wortmann, S., Marquardt, T., Haack, T. B., Krägeloh-Mann, I., Schöls, L., & Synofzik, M. (2018). SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. JOURNAL OF MEDICAL GENETICS , 55(1), 39-47. https://doi.org/10.1136/jmedgenet-2017-104622

Roeben, Benjamin ; Schüle, Rebecca ; Ruf, Susanne et al. / SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. In: JOURNAL OF MEDICAL GENETICS 2018 ; Vol. 55, No. 1. pp. 39-47.

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title = "SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.",

keywords = "HEREDITARY SPASTIC PARAPLEGIA, MOTOR-NEURON DEGENERATION, INBORN-ERRORS, BIOSYNTHESIS, DYSTONIA, METABOLISM, DEAFNESS, DISEASE, GENE",

author = "Benjamin Roeben and Rebecca Sch{\"u}le and Susanne Ruf and Benjamin Bender and Bader Alhaddad and Tanja Benkert and Thomas Meitinger and Selina Reich and Judith B{\"o}hringer and Claus-Dieter Langhans and Vaz, {Fr{\'e}d{\'e}ric M} and Saskia Wortmann and Thorsten Marquardt and Haack, {Tobias B} and Ingeborg Kr{\"a}geloh-Mann and Ludger Sch{\"o}ls and Matthis Synofzik",

note = "Wortmann: PMU, Dept Pediat, Salzburg, Austria;",

year = "2018",

doi = "10.1136/jmedgenet-2017-104622",

language = "English",

volume = "55",

pages = "39--47",

journal = "JOURNAL OF MEDICAL GENETICS ",

issn = "0022-2593",

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Roeben, B, Schüle, R, Ruf, S, Bender, B, Alhaddad, B, Benkert, T, Meitinger, T, Reich, S, Böhringer, J, Langhans, C-D, Vaz, FM, Wortmann, S, Marquardt, T, Haack, TB, Krägeloh-Mann, I, Schöls, L & Synofzik, M 2018, 'SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.', JOURNAL OF MEDICAL GENETICS , vol. 55, no. 1, pp. 39-47. https://doi.org/10.1136/jmedgenet-2017-104622

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. / Roeben, Benjamin; Schüle, Rebecca; Ruf, Susanne et al.
In: JOURNAL OF MEDICAL GENETICS , Vol. 55, No. 1, 2018, p. 39-47.

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

TY - JOUR

T1 - SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

AU - Roeben, Benjamin

AU - Schüle, Rebecca

AU - Ruf, Susanne

AU - Bender, Benjamin

AU - Alhaddad, Bader

AU - Benkert, Tanja

AU - Meitinger, Thomas

AU - Reich, Selina

AU - Böhringer, Judith

AU - Langhans, Claus-Dieter

AU - Vaz, Frédéric M

AU - Wortmann, Saskia

AU - Marquardt, Thorsten

AU - Haack, Tobias B

AU - Krägeloh-Mann, Ingeborg

AU - Schöls, Ludger

AU - Synofzik, Matthis

N1 - Wortmann: PMU, Dept Pediat, Salzburg, Austria;

PY - 2018

Y1 - 2018

KW - HEREDITARY SPASTIC PARAPLEGIA

KW - MOTOR-NEURON DEGENERATION

KW - INBORN-ERRORS

KW - BIOSYNTHESIS

KW - DYSTONIA

KW - METABOLISM

KW - DEAFNESS

KW - DISEASE

KW - GENE

U2 - 10.1136/jmedgenet-2017-104622

DO - 10.1136/jmedgenet-2017-104622

M3 - Original Article

C2 - 28916646

SN - 0022-2593

VL - 55

SP - 39

EP - 47

JO - JOURNAL OF MEDICAL GENETICS

JF - JOURNAL OF MEDICAL GENETICS

IS - 1

ER -

Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T et al. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. JOURNAL OF MEDICAL GENETICS . 2018;55(1):39-47. doi: 10.1136/jmedgenet-2017-104622