Results 131 to 140 of about 1,518 (174)

Neurodegeneración asociado al déficit de pantotenato quinasa (PKAN)

Universidad de Sevilla.
openaire   +1 more source

Exploring the efficacy of deep brain stimulation in pediatric neurological disorders: a comprehensive review. [PDF]

Acta Epileptol
Wang T, Wang X, Wang Y, Zhou Y.
europepmc   +1 more source

Blepharoclonus - a novel phenotypic association with a VAC14 variant. [PDF]

Clin Park Relat Disord
Madhavi K, Kandadai RM, Kola S, Borgohain R, Prasad V.   +4 more
europepmc   +1 more source

Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience. [PDF]

BMC Pediatr
Özsaydi Aktaşoğlu E, Akyüz A, Gökalp S, Altun AN, Demi̇r F, Gönen E, Soysal Acar AŞ, İnci̇ A, Okur İ, Ezgü FS, Tümer L.   +10 more
europepmc   +1 more source

Impaired mitochondrial integrity and compromised energy production underscore the mechanism underlying CoASY protein-associated neurodegeneration. [PDF]

Cell Mol Life Sci
Shao Y, Hu J, Yan K, Zheng K, Sha W, Wang J, Wu J, Huang Y.   +7 more
europepmc   +1 more source

Functional impairments in NBIA patients: Preliminary results. [PDF]

Intractable Rare Dis Res
Syczewska M, Stęplowska A, Szczerbik E, Kalinowska M, Cwyl M.   +4 more
europepmc   +1 more source

Dyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report. [PDF]

SAGE Open Med Case Rep
Rodriguez-Perez HM, Reyes-Flores OB, Quiñonez-Pacheco Y, Centeno-Navarrete YA, Gonzalez-Vazquez C, Campos-Garcia FJ.   +5 more
europepmc   +1 more source

Identification and characterization of mono- and bifunctional galactan synthases in the pediatric pathogen Kingella kingae. [PDF]

J Biol Chem
Porsch EA, Allas MJ, Montoya NR, Muñoz VL, Tan L, Muszyński A, Azadi P, Hyland SN, Grimes CL, Kao TT, Lowary TL, St Geme JW.   +11 more
europepmc   +1 more source

Simultaneous MEG-LFP Recordings to Assess In Vivo Dystonic Neurophysiological Networks: A Feasibility Study. [PDF]

Brain Sci
Visani E, Bergamini L, Gorlini C, Duran D, Golfrè Andreasi N, Zorzi G, Minacapilli E, Rossi Sebastiano D, Lanteri P, Cazzato D, Eleopra R, Levi V.   +11 more
europepmc   +1 more source

Progressive Supranuclear Palsy With Post-traumatic Frontal Lobe Damage Mimicking Anti-IgLON5 Antibody Disease. [PDF]

Cureus
Ates Gulkok D, Raj A, Mishan Y, Bloom J, Zaita B, Fekete R.   +5 more
europepmc   +1 more source