A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Katharina Vill; Wolfgang Müller-Felber; Bader Alhaddad; Tim M. Strom; Veronika Teusch; Heike Weigand; Astrid Blaschek; Thomas Meitinger; Tobias B. Haack

doi:10.1002/mds.26922

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Katharina Vill, Wolfgang Müller-Felber, Bader Alhaddad, Tim M. Strom, Veronika Teusch, Heike Weigand, Astrid Blaschek, Thomas Meitinger, Tobias B. Haack

Medicine and Health

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

15 Scopus citations

Original language	English
Pages (from-to)	797-799
Number of pages	3
Journal	Movement Disorders
Volume	32
Issue number	5
DOIs	https://doi.org/10.1002/mds.26922
State	Published - May 2017

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10.1002/mds.26922

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title = "A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation",

author = "Katharina Vill and Wolfgang M{\"u}ller-Felber and Bader Alhaddad and Strom, {Tim M.} and Veronika Teusch and Heike Weigand and Astrid Blaschek and Thomas Meitinger and Haack, {Tobias B.}",

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T1 - A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

AU - Vill, Katharina

AU - Müller-Felber, Wolfgang

AU - Alhaddad, Bader

AU - Strom, Tim M.

AU - Teusch, Veronika

AU - Weigand, Heike

AU - Blaschek, Astrid

AU - Meitinger, Thomas

AU - Haack, Tobias B.

PY - 2017/5

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DO - 10.1002/mds.26922

M3 - Letter

C2 - 28150420

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SN - 0885-3185

VL - 32

SP - 797

EP - 799

JO - Movement Disorders

JF - Movement Disorders

IS - 5

ER -

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

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