Results 181 to 190 of about 269,697 (252)

Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. [PDF]

Neurol Genet
Ndiaye PS, Paul S, Zhao G, Ding C, Pulst SM, Schwarz T.   +5 more
europepmc   +1 more source

Acute Post‐Partum Psychosis and Dystonia Reveals Late‐Onset MPAN

Movement Disorders Clinical Practice, EarlyView.
Mathilde Lachaume, Audrey Schalk, Nadège Calmels, Christine Tranchant, Ozanne de Andrade, Fabrice Berna, Mathieu Anheim, Thomas Wirth   +7 more
wiley   +1 more source

Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder, driven by multiple mechanisms among which are lysosomal and mitochondrial dysfunction. Here, we explored blood‐based lysosomal and mitochondrial profiles in relation to PD diagnosis and severity.
Janna van Wetering, Manon M. van Ingen, Evelien Timmermans, Sjors G.J.G. in't Veld, Henk W. Berendse, Charlotte E. Teunissen, Wilma D.J. van de Berg   +6 more
wiley   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings. [PDF]

Ann Clin Transl Neurol
Yeow D, Katz M, Rodgers J, Davis M, Robertson T, Gardner RJM, McCombe PA.   +6 more
europepmc   +1 more source

Adult‐Onset Dystonia Related to PRKRA (DYT16): A Predictor of Favorable Deep Brain Stimulation Outcome

Movement Disorders Clinical Practice, EarlyView.
Ingrid Lorena da Silva Gomes, Eduardo Drews Amorim, Juan Sebastián Sánchez León, Thomas Hugentobler Schlickmann, Yuri Ferreira Felloni Borges, Artur Francisco Schumacher Schuh, Daniel Teixeira‐dos‐Santos, Sheila Trentin, Thais Lampert Monte, Bruno Samuel Fraiman de Oliveira   +9 more
wiley   +1 more source

Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha, Nellie Georgiou‐Karistianis, Vivienne Teo, Louise A. Corben, David J. Szmulewicz, Lachlan T. Strike, Marcondes C. França Jr., Thiago J.R. Rezende, Ian H. Harding   +8 more
wiley   +1 more source

Clinical and Molecular Characterization of <i>TCIRG1</i>-Related Autosomal Recessive Osteopetrosis with Current Therapeutic Approaches. [PDF]

Biomedicines
Nagieva SE, Smirnikhina SA.
europepmc   +1 more source

Levodopa‐Responsive Parkinsonism Preceded by Isolated Upper Limb Tremor Associated with PTEN Variant

Movement Disorders Clinical Practice, EarlyView.
Sacha E. Gandhi, Rekha Siripurapu, Audrey Smith, Christopher Kobylecki   +3 more
wiley   +1 more source

Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims GNE myopathy (GNEM) is a rare, autosomal recessive disorder caused by mutations in the UDP‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase (GNE) gene, which encodes a required enzyme for sialic acid (SA) biosynthesis.
Kristina M. Sattler, Brian J. Paleo, Mackenzie N. Roth, Kara E. Bradley, Megan N. Winkler, Wakako Yoshioka, Ichizo Nishino, Christoph Lepper, Kelly E. Crowe   +8 more
wiley   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +1 more source