Results 141 to 150 of about 7,269 (167)

Ataxia with oculomotor apraxia type 2 due to the new compound heterozygous variants c.5825T>C (inherited) and c.6106+1G>T (de novo) in SETX. [PDF]

Clinics (Sao Paulo)
Fiorini AC, Scorza CA, Scorza FA, Finsterer J.   +3 more
europepmc   +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

Myoclonus and Gaze Palsy in Childhood-Onset SQSTM1-Related Neurodegeneration. [PDF]

J Mov Disord
Ganguly J, Roychowdhury S, Keshav R, Dutta D, Mukherjee S, Basu P, Kumar H.   +6 more
europepmc   +1 more source

Downbeat nystagmus: a practical approach based on a clinical case. [PDF]

Arq Neuropsiquiatr
Martins RR, Pereira CB.
europepmc   +1 more source

A Practical Diagnostic Approach to Pediatric Episodic Vestibular Syndrome. [PDF]

Children (Basel)
Rey-Berenguel M, Espinosa-Sanchez JM.
europepmc   +1 more source

Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental Delay. [PDF]

Cureus
Fernandes IF, Figueiredo AC, Parente Freixo J, Dupont J, Carvalho J.   +4 more
europepmc   +1 more source

Seizures in a cat with metabotropic glutamate receptor 1 (mGluR1) antibodies: a case report. [PDF]

Front Vet Sci
Putzer M, Hörmann A, Stegfellner V, Volk HA, Neßler JN.   +4 more
europepmc   +1 more source

Recurrent acute liver failure in infancy - a novel <i>SCYL1</i> mutation: A case report. [PDF]

World J Clin Pediatr
Zourob D, Teneiji AA, Miqdady M, Al Atrash E.   +3 more
europepmc   +1 more source

Antibodies to Transglutaminase-6 Identify Ataxia Responsive to Gluten-Free Diet. [PDF]

Nutrients
Hadjivassiliou M, Grünewald RA, Croall ID, Hoggard N, Wild G, Zis P, Shanmugarajah P, Sanders DS.   +7 more
europepmc   +1 more source