Publications by authors named "Jennifer Reichbauer"

Claim this Profile
C
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.
Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, Tim W Rattay, Holger Hengel, Jennifer Reichbauer

Ann Clin Transl Neurol· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand

Eur J Hum Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand

Eur J Hum Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.
Christoph Kessler, Lina M Serna-Higuita, Tim W Rattay, Walter Maetzler, Isabel Wurster, Jennifer Reichbauer

Ann Clin Transl Neurol· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Milan Zimmermann, Stefanie Schuster, Sylvia Boesch, G Christoph Korenke, Julia Mohr, Jennifer Reichbauer

Parkinsonism Relat Disord· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Aicardi-Goutières syndrome due to a paternal mosaic mutation.
Victoria Tüngler, Marion Doebler-Neumann, Michaela Salandin, Peter Kaufmann, Christine Wolf, Jennifer Reichbauer

Neurol Genet· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Matias Wagner, Daniel P S Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Jennifer Reichbauer

Nat Commun· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Tim W Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Jennifer Reichbauer

Brain· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Jennifer Reichbauer

Am J Hum Genet· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Jennifer Reichbauer

Am J Hum Genet· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.
Maike Nagel, Jennifer Reichbauer, Judith Böhringer, Yvonne Schelling, Inge Krägeloh-Mann

Stem Cell Res· March 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer

Brain· June 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias.
Dana M Bis, Rebecca Schüle, Jennifer Reichbauer, Matthis Synofzik, Tim W Rattay

Mol Genet Genomic Med· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Jennifer Reichbauer

Brain· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
Saki Sultana, Jennifer Reichbauer, Rebecca Schüle, Fanny Mochel, Matthis Synofzik

Biochem Biophys Res Commun· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Motor protein mutations cause a new form of hereditary spastic paraplegia.
Andrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, Tobias Lindig, Jennifer Reichbauer

Neurology· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis