Results 171 to 180 of about 41,423 (288)

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source

Lesion of the Subthalamic Nucleus Should Not be Labeled "Subthalamotomy"; A Plea for Anatomical Accuracy and Compliance with Historical Legacy. [PDF]

Mov Disord
Hariz M, Régis J, Zrinzo L, Krueger MT, Akram H, Blomstedt P.   +5 more
europepmc   +1 more source

Deep-brain stimulation of the subthalamic nucleus improves overriding motor actions in Parkinson’s disease

, 2021
Wery P. M. van den Wildenberg, Nelleke C. van Wouwe, K. Richard Ridderinkhof, Joseph S. Neimat, W. Jeffrey Elias, Theodore R. Bashore, Scott A. Wylie   +6 more
openalex   +2 more sources

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S. Pearson, Kathrin Jeltsch, Ivana Badnjarevic, Tessa Wassenberg, Gabriella Horvath, Galina Stevanovic, Manju A. Kurian, Elisenda Cortès‐Saladelafont, Agathe Roubertie, Vincenzo Leuzzi, Mariarita Bertoldi, Mario Mastrangelo, Birgit Assmann, THD Guidelines Working Group, Ines Denzler, Clarisa Maxit, Natalia Alexandra Julia‐Palacios, Shekeeb Mohammad, Helly Goez, Wai‐Ian Yeung, Tomáš Honzík, Ivana Kavecan, Alba Tristán‐Noguero, Alberto Burlina, Daniela Gueraldi, Sushil Bandodkar, Willemsen Michel, Francesco Porta, Sheila Wong, Filippo Manti, Reem Alkhater, Chris Mühlhausen, Alice Kuster, Dimitrios Zafeiriou, Paulo Sgobbi, Wladimir Bocca Vieira de Rezende Pinto, Angeles Garcia‐Cazorla, Thomas Opladen   +41 more
wiley   +1 more source

Burst-type deep brain stimulation of the subthalamic nucleus in Parkinson's disease: A case series on tolerability and efficacy. [PDF]

Surg Neurol Int
Jaffee S, Kite T, Kusyk D, Whiting D, Tomycz N.   +4 more
europepmc   +1 more source

Efficacy of deep brain stimulation of the subthalamic nucleus in Parkinson's disease 4 years after surgery: double blind and open label evaluation [PDF]

, 2004
María Rodríguez‐Oroz
openalex   +1 more source

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

Adaptive deep brain stimulation targeting the subthalamic nucleus in a patient with Parkinson's disease: A CARE compliant case report. [PDF]

Medicine (Baltimore)
Patel T, Patel T, Hanani C, Noor A, Cheema S, Farhan M, Sohail R, Goyal A, David John J, Omole AE, Millis RM.   +10 more
europepmc   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1280-1295, November 2025.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 more
wiley   +1 more source

Theta-frequency subthalamic nucleus stimulation increases decision threshold. [PDF]

Brain Stimul
Cole RC, Ging-Jehli NR, Vivanco Suarez J, Greenlee JD, Wessel JR, Espinoza AI, Zhang J, Cavanagh JF, Narayanan NS.   +8 more
europepmc   +1 more source