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21 . Academic Journal
Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells – A PROSPAX study.
저자
by
Tunca, Ceren
;
İşlek Camadan, Eylül Ece
;
Smolina, Natalia
;
Palvadeau, Robin J.
;
Öztop Çakmak, Özgür
, et al.
소스
Movement Disorders
. Sep2024, p1. 7p. 1 Illustration, 1 Chart.
Full Text (Wiley)
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27 . Academic Journal
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
저자
by
Mohren, Lars
;
Erdlenbruch, Friedrich
;
Leitão, Elsa
;
Kilpert, Fabian
;
Hönes, G. Sebastian
, et al.
소스
Nature Communications; 9/3/2024, Vol. 15 Issue 1, p1-20, 20p
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27 . Academic Journal
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.
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by
Scaravilli, Alessandra
;
Gabusi, Ilaria
;
Mari, Gaia
;
Battocchio, Matteo
;
Bosticardo, Sara
, et al.
소스
Journal of Neurology
. Aug2024, Vol. 271 Issue 8, p5468-5477. 10p.
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27 . Academic Journal
Item performance of the scale for the assessment and rating of ataxia in rare and ultra‐rare genetic ataxias.
저자
by
Hamdan, Alzahra
;
Hooker, Andrew C.
;
Chen, Xiaomei
;
Traschütz, Andreas
;
Schüle, Rebecca
, et al.
소스
CPT: Pharmacometrics & Systems Pharmacology
. Aug2024, Vol. 13 Issue 8, p1327-1340. 14p.
Open Access (Wiley)
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27 . Academic Journal
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures
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by
Lessard, Isabelle
;
Brais, Bernard
;
Côté, Isabelle
;
Lavoie, Caroline
;
Synofzik, Matthis
, et al.
소스
In
Journal of the Neurological Sciences
15 July 2018 390:4-9
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27 . Academic Journal
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
저자
by
Pottier, Cyril
;
Zhou, Xiaolai
;
Perkerson, Ralph B, III
;
Baker, Matt
;
Jenkins, Gregory D
, et al.
소스
In
The Lancet Neurology
June 2018 17(6):548-558
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27 . Academic Journal
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development
저자
by
Cheerie, David
;
Lauffer, Marlen
;
Beijer, Danique
;
Synofzik, Matthis
;
Aartsma-Rus, Annemieke
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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27 . Academic Journal
FARS‐ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
저자
by
Traschütz, Andreas
;
Fleszar, Zofia
;
Hengel, Holger
;
Klockgether, Thomas
;
Erdlenbruch, Friedrich
, et al.
소스
Movement Disorders
. Jun2024, Vol. 39 Issue 6, p965-974. 10p.
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27 . Academic Journal
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.
저자
by
Santorelli, Filippo M.
;
McLoughlin, Hayley S.
;
Wolter, Justin M.
;
Galatolo, Daniele
;
Synofzik, Matthis
, et al.
소스
Cerebellum
. Jun2024, Vol. 23 Issue 3, p881-886. 6p.
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27 . Academic Journal
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.
저자
by
Klockgether, Thomas
;
Synofzik, Matthis
;
Alhusaini, Saud
;
Anheim, Mathieu
;
Antonijevic, Irina
, et al.
소스
Cerebellum
. Jun2024, Vol. 23 Issue 3, p924-930. 7p.
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