Results 151 to 160 of about 5,948 (206)

Familial spinocerebellar ataxia type 3: A case report of multi-generational presentation. [PDF]

Medicine (Baltimore)
Wang J, Liu Z, Shi C, Pan C, Chen J, Zhao Z, Yang D, Huang H.   +7 more
europepmc   +1 more source

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization. [PDF]

Front Neurol
Wei S, Zhao Z, Li N, Guo X, Chen J, Hu J.   +5 more
europepmc   +1 more source

Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling. [PDF]

Orphanet J Rare Dis
Rensink MJ, Bolt LLE, Tibben A, Oosterloo M, Warrenburg BPCV, Schermer MHN.   +5 more
europepmc   +1 more source

Establishment of a second-generation transgenic marmoset with germline transmission that models polyglutamine disease. [PDF]

Dis Model Mech
Minakawa EN, Owari K, Nogami N, Nakatani T, Koizumi M, Kawanobe A, Saga Y, Kudo M, Noguchi S, Hanakawa T, Hori Y, Numazawa H, Takeuchi T, Katakai Y, Saito R, Nagai Y, Saito Y, Tomioka I, Seki K.   +18 more
europepmc   +1 more source

Fixel-Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia. [PDF]

Ann Clin Transl Neurol
Arpin DJ, Subramony SH, READISCA Consortium, Vaillancourt DE, Ashizawa T, Durr A, Mareci T, Klockgether T, Faber J, Paulson HL, Öz G, Burns MR.   +11 more
europepmc   +1 more source

An acyclic nucleic acid-modified siRNA targeting CAG expansions for polyglutamine disease treatment. [PDF]

Mol Ther Nucleic Acids
Maeda K, Hirunagi T, Sahashi K, Kamiya Y, Iida M, Sakakibara K, Onodera K, Ohyama M, Okada Y, Okano H, Asanuma H, Katsuno M.   +11 more
europepmc   +1 more source

7T magnetic resonance imaging-based investigation of the correlation between mammillary body structure and cognitive impairment in patients with spinocerebellar ataxia type 3. [PDF]

Psychoradiology
Li C, Peng Y, Ou P, Wen R, Chen W, Tian C, Zhen Z, Wang X, Ou L, Liu C, Wang B.   +10 more
europepmc   +1 more source

Proteostasis disruption and lipid dyshomeostasis in neurodegeneration: exploring common druggable targets across sporadic and monogenic disorders. [PDF]

Front Mol Neurosci
Pereira Sena P, Friedrich L, Villarreal A, Fath F, Sopco L, Hernández-Guillamon M, Saraiva-Pereira ML, Britton G, Weber JJ, Schmidt T.   +9 more
europepmc   +1 more source

Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study. [PDF]

Cerebellum
Matlawska M, Ziora-Jakutowicz K, Dicaire MJ, Pera J, Pellerin D, Brais B, Iruzubieta P, Elert-Dobkowska E, Sulek A.   +8 more
europepmc   +1 more source

Frontal ataxia: a frequent but underrecognized disorder in the spectrum of ataxias. [PDF]

Arq Neuropsiquiatr
Cassarotti B, Bonilha PAAM, Nunes TEM, Coutinho L, Camargo CHF, Teive HAG.   +5 more
europepmc   +1 more source