Results 121 to 130 of about 8,128 (220)

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature.

, 1999
Gilles de la Tourette syndrome (TS) and idiopathic focal torsion dystonia are both movement disorders in which the pathologic process is thought to arise within the basal ganglia.
Hyman, NM, Williams, A, Mills, KR, Elston, JS, Dunne, E, Németh, AH   +5 more
core   +1 more source

Laryngeal breathing dystonia

, 2003
Laryngeal Breathing Dystonia (LBD) is a rare disorder characterized by inappropriate adduction of the true vocal cords during inspiration, resulting in stridor and dispnea.
Silveira, Paula Angélica L. [UNIFESP], Pontes,Paulo Augusto de Lima, Biase,Noemi G. de, Silveira, Paula Angélica L., Lebl, Mariana Dantas Aumond [UNIFESP], Pontes, Paulo Augusto de Lima, Silveira,Paula Angélica L., De Biase, Noemi Grigoletto [UNIFESP], Biase, Noemi G. de, Lebl, Mariana Dantas Aumond, Lebl,Mariana Dantas Aumond, Pontes, Paulo Augusto de Lima [UNIFESP]   +11 more
core   +1 more source

Comparison of the effect of intra-dermal injection of botulinum toxin and normal saline in the treatment of facial skin pores

Journal of Family Medicine and Primary Care
Background and Purpose: Skin pores (SPs) are normal and benign skin structures that are mostly located on the face (nose, cheeks, etc.) that cause many aesthetic concerns or complaints.
Nader Pazyar, Saeed Ashoori, Atefeh Mahdianrad, Maryam Seyedtabib   +3 more
doaj   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan, Gizem Gider Yaman, Anıl Gok, Leman Tekin Orgun   +3 more
wiley   +1 more source

Lateral pterygoid muscle dystonia. A new technique for treatment with botulinum toxin guided by electromyography and arthroscopy

, 2011
Lateral pterygoid muscle dystonia is characterized by mandibular displacement towards the opposite side of the affected muscle. It may be associated with functional disorders affecting speech, swallowing, chewing and facial symmetry.
Martos, Pedro L., R. Bances-del Castillo, Altura Guillén, Oscar Miguel, Mancha de la Plata, María, Rodríguez Campo, Francisco José, V. Escorial-Hernandez, O. Altura-Guillen, M. Mancha-de la-Plata, P. Martos-Diaz, GY. Cho-Lee, Escorial Hernandez, Veronica, FJ. Rodriguez-Campo, Bances del Castillo, Raquel, Cho Lee, Gui-Youn   +13 more
core   +1 more source

Smartphone video-based early diagnosis of blepharospasm using dual cross-attention modeling enhanced by facial pose estimation

npj Digital Medicine
Blepharospasm is a focal dystonia characterized by involuntary eyelid contractions that impair vision and social function. The subtle clinical signs of blepharospasm make early and accurate diagnosis difficult, delaying timely intervention. In this study,
Shenyu Huang, Boyuan Yang, Xiaoling Huang, Huina Zhang, Dong Luo, Guanchao Tong, Yijie Wang, Yongqing Shao, Menglu Chen, Qi Gao, Juan Ye   +10 more
doaj   +1 more source

Chewing-induced Facial Dystonia

Annals of the Academy of Medicine, Singapore, 2010
Sam SY Yang, Raymond CS Seet, Erle CH Lim   +2 more
openaire   +1 more source

Paroxysmal stereotypy-tic-dystonia syndrome

, 2003
Case reports: We report the cases of four males from four different families, who presented paroxysmal episodes from the 1st 2nd year. These episodes were characterised by asymmetrical bilateral dystonia of the upper limbs, predominantly in both hands ...
Domínguez-Ramírez, S., Toledo Bravo de Laguna, L., Martí-Herrero, M., Fernández-Burriel, M., Cabrera-López, J. C., Fortea-Sevilla, S.   +5 more
core  

Electrophysiological biomarkers in genetic movement disorders

, 2008
BACKGROUND. Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of
Schneider, K.S.A.I.M
core