Buchumschlag

Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings

Fuente: Wiley Open Access

Gespeichert in:

Bibliographische Detailangaben
Hauptverfasser:	Diego Lopergolo, Daniele Gasparini, Silvia Bianchi, Barbara Pucci, Domenico Tripodi, Valerio Leoni, Andrea Chincarini, Stelvio Sestini, Henrik Zetterberg, Nicola De Stefano, Andrea Mignarri
Format:	Artículo Open Access
Veröffentlicht:	Wiley 2025
Schlagworte:	European Journal of Neurology
Online-Zugang:	Acceder al recurso
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
von: Maria Gabriela Otero, et al.
Veröffentlicht: (2025)

Novel Heterozygous SOS1 Variant in Syringomyelia With Chiari I Malformation and Noonan Syndrome
von: Taichi Nomura, et al.
Veröffentlicht: (2026)

Heterozygous variants in AP4S1 are not associated with a neurological phenotype
von: Vicente Quiroz, et al.
Veröffentlicht: (2025)

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia
von: Yaping Meng, et al.
Veröffentlicht: (2025)

Increased Blood Levels of NfL , GFAP , and Placental Growth Factor After Radiotherapy to the Brain
von: Erik Fernström, et al.
Veröffentlicht: (2025)

Kappa Free Light Chains Reflect Treatment Response and Progression Independent of Focal Inflammation in Multiple Sclerosis
von: Igal Rosenstein, et al.
Veröffentlicht: (2026)

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis
von: Chitrabhanu Gupta, et al.
Veröffentlicht: (2026)

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe
von: Veronica Sian, et al.
Veröffentlicht: (2025)

Efferent projections of Nps ‐expressing neurons in the parabrachial region
von: Richie Zhang, et al.
Veröffentlicht: (2024)

Presenilin‐1 C779T Mutation Presenting With Rapidly Progressive Dementia and Medial Temporal Lobe MRI Changes
von: Marco Toccaceli Blasi, et al.
Veröffentlicht: (2025)

Super‐Refractory Status Epilepticus ( SRSE ) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review
von: Pouria Mohammadi, et al.
Veröffentlicht: (2026)

Preliminary Validation of the FCD‐Q8 Tool in Functional Cognitive Disorder and Early Alzheimer's Disease: A Biomarker‐Verified Case–Control Study
von: Ernesto García‐Roldán, et al.
Veröffentlicht: (2025)

Before Symptoms Begin: Immune Activation in Preclinical ALS
von: Adriano Chiò, et al.
Veröffentlicht: (2026)

A Distinct Immunological Signature in Late‐Onset Myasthenia Gravis: Insights from an Exploratory Proteomics Study
von: Bhaskar Roy, et al.
Veröffentlicht: (2025)

Brain‐Derived Tau as an Outcome Marker in Guillain‐Barré Syndrome: A Retrospective Cohort Study
von: Brynhildur Hafsteinsdóttir, et al.
Veröffentlicht: (2025)

Blood Lactate as a Prognostic Biomarker for Survival and Weight Loss in Amyotrophic Lateral Sclerosis: An Exploratory–Validation Study
von: Ryutaro Nakamura, et al.
Veröffentlicht: (2026)

CSF biomarkers of neurotoxicity in childhood cancer survivors after cranial radiotherapy or surgery
von: Erik Fernström, et al.
Veröffentlicht: (2024)

Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model
von: Hailan He, et al.
Veröffentlicht: (2024)

Is a Novel Transthyretin Gene Mutation Associated With Cerebral Amyloid Angiopathy?
von: Strazzabosco Camilla, et al.
Veröffentlicht: (2025)

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
von: Hormos Salimi Dafsari, et al.
Veröffentlicht: (2025)

Correction to “Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model”
Veröffentlicht: (2024)

Preliminary Observations on the Efficacy of Efgartigimod Therapy in Autoimmune Nodopathy
von: Hongfei Tai, et al.
Veröffentlicht: (2025)

Serum neurofilament light chain and small fiber neuropathy: Every cloud has a silver lining
von: Domenico Plantone, et al.
Veröffentlicht: (2024)

Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients
von: Ru‐Ying Yuan, et al.
Veröffentlicht: (2025)

The importance of social capital for the functioning of families with a child with neurodevelopmental disability
von: Andrea Bánovčinová
Veröffentlicht: (2024)

Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
von: Heather Marriott, et al.
Veröffentlicht: (2024)

Adult‐Onset Leigh Syndrome due to SURF1 Mutations
von: J.-B. Brunet de Courssou, et al.
Veröffentlicht: (2026)

Molecular Ontology of the Nucleus of Solitary Tract
von: Silvia Gasparini, et al.
Veröffentlicht: (2024)

No General Association Between Myositis Antibodies and Electromyography Findings
von: Benedict Kleiser, et al.
Veröffentlicht: (2026)

The FindMNDBiomarker Program: Protein Changes in Motor Neuron Disease/Amyotrophic Lateral Sclerosis Postmortem Tissue and Biofluids
von: Gabrielle L. Adler, et al.
Veröffentlicht: (2025)

Increased risk of functional neurological disorders following SARS‐CoV‐2 vaccination
von: Andrea Pilotto, et al.
Veröffentlicht: (2024)

Frequency and Relevance of MYD88L256P Mutation in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Multifocal Motor Neuropathy
von: Alexandre Guérémy, et al.
Veröffentlicht: (2025)

Frequency‐ and Network‐Specific Changes in Functional Connectivity Reflect Pathophysiological Mechanisms across Parkinson's Disease Stages
von: Matteo Conti, et al.
Veröffentlicht: (2026)

Clinical Findings in Temporal Lobe Epilepsy Associated With Isolated Amygdala Enlargement
von: Annika Kirscht, et al.
Veröffentlicht: (2025)

Association of Reduced Brain Metabolism With Motor Function and Survival in Amyotrophic Lateral Sclerosis Patients With Neurofilament Heavy (NEFH) Gene Mutation
von: Xinyu Song, et al.
Veröffentlicht: (2025)

Bridging Electrophysiology and Digital Health: Microneurography Findings in Long COVID Herald a New Era of AI ‐Powered Peripheral Nerve Monitoring
von: Shaher Yar, et al.
Veröffentlicht: (2026)

Transcranial Brain Parenchyma Sonographic Findings in Familial and Sporadic Amyotrophic Lateral Sclerosis
von: Ivo Bozovic, et al.
Veröffentlicht: (2025)

Correction to “Type 2 Alexander Disease With a Novel Glial Fibrillary Acidic Protein Gene Mutation and Its Unique Clinical Features”
Veröffentlicht: (2025)

Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3‐OMD Testing: An Italian Delphi Consensus
von: Carlotta Spagnoli, et al.
Veröffentlicht: (2024)

Reply to: “Bridging Electrophysiology and Digital Health: Microneurography Findings in Long COVID Herald a New Era of AI ‐Powered Peripheral Nerve Monitoring”
von: Ana Ribeiro, et al.
Veröffentlicht: (2026)