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1

Journal Article

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Traschütz, Andreas
2023

Movement disorders, 38 (2023) 6, S. 1109-1112

“...Klopstock, Thomas...”
OpenAccess

2

Journal Article

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients

Traschütz, Andreas
2023

Annals of neurology, 94 (2023) 3, S. 470 - 485

“...Klopstock, Thomas...”
OpenAccess

3

Journal Article

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Cunha, Paulina
2023

The American journal of human genetics, 110 (2023) 7, S. 1098 - 1109

“...Klopstock, Thomas...”

4

Journal Article

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders ( NERD ND ): Time to Move Beyond the Skin

Cordts, Isabell
2022

Movement disorders, 37 (2022) 8, S. 1707-1718

“...Klopstock, Thomas...”
OpenAccess

5

Conference Presentation

Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective analysis of 931 patients with autosomal recessive or early-onset ataxia

Traschütz, A.
2022

“...Klopstock, T....”

6

Journal Article

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

Reetz, Kathrin
2021

The lancet / Neurology, 20 (2021) 5, S. 362 - 372

“...Klopstock, Thomas...”
OpenAccess

7

Journal Article

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

Traschütz, Andreas
2021

Frontiers in neurology, 12 (2021) S. 677551

“...Klopstock, Thomas...”
OpenAccess

8

Journal Article

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1

Klionsky, Daniel J.
2021

Autophagy, 17 (2021) 1, S. 1 - 382

“...Klopstock, Thomas...”

9

Journal Article

Nonataxia symptoms in Friedreich Ataxia

Reetz, Kathrin
2018

Neurology, 91 (2018) 10, S. e917 - e930

“...Klopstock, Thomas...”

10

Journal Article

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

Tanguy Melac, Audrey
2018

Journal of neurology, neurosurgery, and psychiatry, 89 (2018) 6, S. 559 - 565

“...Klopstock, Thomas...”
Published on 2017-12-26. Available in OpenAccess from 2019-06-26. Published on 2017-12-26. Available in OpenAccess from 2019-06-26.

11

Journal Article

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop, Martina
2017

Brain, 140 (2017) 6, S. 1561 - 1578

“...Klopstock, Thomas...”

12

Das Netzwerk “Frühbeginnende Ataxien (EOA): von Next-generation Sequencing zu Biomarkern, Trial-Ready Kohorten und Therapie

Synofzik
2016

“...Klopstock, T....”

13

Journal Article

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Reetz, Kathrin
2016

The lancet / Neurology Neurology, 15 (2016) 13, S. 1346 - 1354

“...Klopstock, Thomas...”
OpenAccess OpenAccess

14

Journal Article

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Reetz, Kathrin
2015

The @lancet / Neurology, 14 (2015) 2, S. 174 - 182

“...Klopstock, Thomas...”

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