Results 101 to 110 of about 2,268 (161)

Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner). [PDF]

Cerebellum
Lazdovska K, Baborikina A, Krutovs V, Rozevska M, Ķēniņa V.   +4 more
europepmc   +1 more source

How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review. [PDF]

Brain Sci
Fiscal-Carvajal AB, De-León-Guerra JL, Salinas-Aguirre CE, Ibarra-Ramírez M, Fernández-de-Luna ML, Estrada-Bellmann IE, Arenas-Estala J, Campos-Acevedo LD, Mohamed-Noriega J.   +8 more
europepmc   +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

Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases. [PDF]

Commun Med (Lond)
Niazi SK.
europepmc   +1 more source

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source

Corrigendum to "Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3β in the impairment of the NRF2 response" [Redox Biol. 76 (2024) 103339]. [PDF]

Redox Biol
Sanz-Alcázar A, Portillo-Carrasquer M, Delaspre F, Pazos-Gil M, Tamarit J, Ros J, Cabiscol E.   +6 more
europepmc   +1 more source

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. [PDF]

Cerebellum
Pretegiani E, Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Kuzmiak M, Milovanovic A, Traschütz A, Tarnutzer AA.   +16 more
europepmc   +1 more source

Translational Paradox of Triplet Repeat Expansion Disorders: Synthesizing Clinical Trial Failures to Guide Future Therapeutics. [PDF]

Clin Pharmacol Ther
Swarup V, Deepika D, Garg D, Srivastava AK.   +3 more
europepmc   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort. [PDF]

Mov Disord
van Prooije TH, Pennings M, Maas RPPWM, de Vries J, Verschuuren-Bemelmans C, Odekerken V, Darweesh SKL, Huisman M, Oosterloo M, Buijink A, van de Wardt J, Vanhoutte E, Wong TH, Koens L, de Boer E, van Gaalen J, Beudel M, Roos DS, Hoff JI, Cornelissen T, Schouten M, Gardeichik T, van der Looij E, Klein C, Trinh J, Kamsteeg EJ, van de Warrenburg B.   +26 more
europepmc   +1 more source

Deciphering Spastic Ataxia: Clinical and Genetic Profiles. [PDF]

Neurol Genet
Damásio J, Santos M, Costa S, Moura J, Sardoeira A, Lemos C, Oliveira J, Barros J, Sequeiros J.   +8 more
europepmc   +1 more source