Results 111 to 120 of about 1,006 (184)

A Structural Variant in the 5' Regulatory Region of <i>DIAPH3</i> Segregates with Postlingual Hearing Loss and Auditory Neuropathy in a Multigenerational Brazilian Family. [PDF]

open access: yesInt Arch Otorhinolaryngol
Lezirovitz K   +11 more
europepmc   +1 more source

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia. [PDF]

open access: yesMov Disord Clin Pract
Satolli S   +6 more
europepmc   +1 more source

Gait and cognitive disorders revealing massive neurocysticercosis: a case report. [PDF]

open access: yesOxf Med Case Reports
Rabearisoa PH   +3 more
europepmc   +1 more source

Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis. [PDF]

open access: yesMov Disord Clin Pract
Ros-Arlanzón P   +4 more
europepmc   +1 more source

Pick's disease presenting as progressive apraxia of speech: Atypical clinical and neuroimaging features in three autopsy-confirmed cases. [PDF]

open access: yesClin Neurol Neurosurg
Jones KE   +9 more
europepmc   +1 more source

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