Results 231 to 240 of about 5,373,856 (290)

Parkinson Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation. [PDF]

Neurol Genet
Hong S, Koretsky MJ, Lichtenberg J, Leonard HL, Pitz V, as the Global Parkinson's Genetics Program (GP2).   +5 more
europepmc   +1 more source

AI‐Based Mitochondrial Network Characterization as a Biomarker for DNM1L‐Related Disease Diagnosis

Advanced Intelligent Systems, EarlyView.
This work provides proof‐of‐concept that AI‐based analysis of mitochondrial network morphology in patient‐derived fibroblasts can identify a phenotypic signature associated with DNM1L deficiency. This automated approach may ultimately provide a complementary functional readout for the interpretation of novel DNM1L variants following genetic testing ...
Uliana Musokhranova, Ioannis Georvasilis, Sofía Illescas, Matina Saritzoglou, Marcos Frías, Mònica Roldán, Anna Ardissone, Isabella Moroni, Àngels García‐Cazorla, Alfonso Oyarzábal   +9 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Pharmacological modulation of cGAS-STING-NLRP3 signaling by nano-immunomodulators in Alzheimer and Parkinson disease. [PDF]

Inflammopharmacology
Abdel-Rasol MA.
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Effect of vitamin D supplementation on clinical outcomes of patients with Parkinson disease: A randomized controlled study. [PDF]

Medicine (Baltimore)
Anamnart C, Kitjarak R.
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Tavapadon as Adjunctive Treatment for Parkinson Disease: The TEMPO-3 Randomized Clinical Trial.

JAMA Neurol
Fernandez HH, Isaacson SH, Hauser RA, Agarwal P, Ondo W, Park A, Kremens D, Leoni M, Duvvuri S, Combs C, Koenig E, Chang I, Pastino G, Tringali S, Golonski N, Sanchez R, Harmer L, Boiser J, Zadikoff C, Mari Z.   +19 more
europepmc   +1 more source

Correction to: Optimized cortical EEG modeling for Parkinson disease diagnosis with snow Shepherd Stride tuning mechanism. [PDF]

Cogn Neurodyn
Kolla M, Madapuri RK, Kandukuri P, Salvadi S, Tadepalli SK, Gajula R.   +5 more
europepmc   +1 more source