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1.
Aging-Related Catatonia with Reversible Dopamine Transporter Dysfunction in Females with Depressive Symptoms: A Case Series.
Am J Geriatr Psychiatry
; 31(12): 1200-1205, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37328402
2.
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
J Hum Genet
; 66(4): 419-429, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33040085
3.
A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs.
BMC Neurol
; 19(1): 301, 2019 Nov 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-31775676
4.
Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece.
Biochem Biophys Res Commun
; 503(2): 915-920, 2018 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29928881
5.
Chorein interacts with α-tubulin and histone deacetylase 6, and overexpression preserves cell viability during nutrient deprivation in human embryonic kidney 293 cells.
FASEB J
; 30(11): 3726-3732, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27468757
6.
Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
J Hum Genet
; 66(4): 449-450, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33184460
7.
Association of auditory Charles Bonnet syndrome with increased blood flow in the nondominant Brodmann area 22.
PCN Rep
; 2(2): e92, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38868153
8.
Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1.
Front Neurol
; 11: 12, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32117000
9.
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.
Neurol Genet
; 5(3): e328, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-31086825
10.
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.
Neurol Genet
; 5(3): e332, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-31192303
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