Results 121 to 130 of about 307,217 (252)

Development of a knowledge translation platform for ataxia: Impact on readers and volunteer contributors

, 2020
Celeste Suart, Katherine J. Graham, Theresa Nowlan Suart, Ray Truant   +3 more
openalex   +1 more source

Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias. [PDF]

Cerebellum
Indelicato E, Nachbauer W, Amprosi M, Pellerin D, Mangesius S, Gizewski ER, Kiechl S, Brais B, Boesch S, Krismer F, Alzheimer’s Disease Neuroimaging Initiative.   +10 more
europepmc   +1 more source

Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report. [PDF]

Mol Genet Metab Rep
Hahn W, Erffmeier K, Schulze M, Zahnert F, Knake S, Tsalouchidou PE.   +5 more
europepmc   +1 more source

New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia

, 2020
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth   +3 more
openalex   +1 more source

Development and validation of the dysarthria impact scale: a patient-reported outcome for motor speech disorders. [PDF]

J Neurol
Vogel AP, Graf L, Weiß M, Chan CSJ, Hepworth G, Synofzik M.   +5 more
europepmc   +1 more source

Familial SCA14: A case report with review. [PDF]

Exp Ther Med
Huang HK, Lee CJ, Cheng WL, Chang HJ, Liu CS.   +4 more
europepmc   +1 more source

Συσχέτιση πολυμορφισμών του γονιδίου ΑΤΜ (Ataxia Telangiectasia Mutated) με την ανταπόκριση στη μετφορμίνη σε ασθενείς με σακχαρώδη διαβήτη τύπου ΙΙ

, 2021
Κατερίνα Λιναρά
openalex   +1 more source

ATM (ataxia telangiectasia mutated)

, 2018
Yossi Shiloh
openalex   +1 more source

Ataxia telangiectasia [PDF]

Arquivos de Neuro-Psiquiatria, 2015
Letícia Sauma, Karine C. S. Teixeira, Maria Augusta Montenegro   +2 more
openaire   +3 more sources

Incorporating Patient Perspectives into a Composite Score for Measuring Disease Progression in Spinocerebellar Ataxia (SCA). [PDF]

Neurol Ther
Potashman MH, Rogula BM, Powell LC, Korol EE, Dickson SP, Hendrix S, Heinrich M, Rudell K, Abetz-Webb L, Beiner MW, Coric V, Rosenthal LS, Perlman SL, Schmahmann JD, L'Italien G.   +14 more
europepmc   +1 more source