Disease: Fazio Londe syndrome
- "De Novo" Hypercapnic Respiratory Failure Unmasking Neuromuscular Disorders: Experiences From a Tertiary Care Center and Review of Literature
- A - 101 A Neuropsychological Case Study of Progressive Bulbar Palsy
- A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the <em>SLC52A3</em> gene
- A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome
- Aberrant dynamic functional network connectivity in progressive supranuclear palsy
- Acute Thyrotoxic Myopathy Combined with Neck Pain: A Case Report
- AI-assisted automatic MRI-based tongue volume evaluation in motor neuron disease (MND)
- Amyotrophic Lateral Sclerosis
- An Analysis of Respiratory Muscle Paralysis of Adult Patients in Guillain-Barré Syndrome: A Retrospective Analysis
- Anti-GT1a and anti-GQ1b immunoglobulin G antibody positivity with overlapping Miller Fisher/Guillain-Barré syndromes and prominent headache: a case report
- Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations
- Benefit of high-dose oral riboflavin therapy in riboflavin transporter deficiency
- Bulbar Onset Amyotrophic Lateral Sclerosis in a COVID-19 Patient: A Case Report
- Case 319
- Case 319: Multisystemic Smooth Muscle Dysfunction Syndrome
- Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia
- Co-occurrence of polyneuritis crainials and visual impairment: a case report and literature review
- Cranial Nerve III Palsy as the First Sign of Carcinomatous Meningitis From Non-Hodgkin's Lymphoma
- Development of a functional outcome measure for riboflavin transporter deficiency
- Distinct involvement of the cranial and spinal nerves in progressive supranuclear palsy
- Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review
- Guillain-Barré Syndrome Presenting as Painful Weakness and Edema of the Legs: A Case Report
- Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum
- Identification of a mutation in <em>TNRC18</em> in a patient with clinical features of Fazio-Londe disease
- Identification of a mutation in TNRC18 in a patient with clinical features of Fazio-Londe disease
- Investigating differences in young- and late-onset progressive supranuclear palsy
- Motor Neuron Disease
- Motor Neuron Disease
- Multiple system atrophy
- Neuroimaging correlates of postural instability in Progressive Supranuclear Palsy
- Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect
- Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons
- Progressive Bulbar Palsy with Facial Diplegia and Proximal Weakness Diagnosed as Juvenile-Onset Myasthenia Gravis
- Progressive Ponto-bulbar Palsy in Childhood
- Riboflavin 1 Transporter Deficiency: Novel <em>SLC52A1</em> Variants and Expansion of the Phenotypic Spectrum
- Spinocerebellar Ataxia Type 1
- Steroid-responsive multifocal motor neuropathy with cranial manifestations - a case report
- The clinical practice guideline for the management of amyotrophic lateral sclerosis in Japan-update 2023
- Uncovering distinct progression patterns of tau deposition in progressive supranuclear palsy using [(18)F]Florzolotau PET imaging and subtype/stage inference algorithm
- Uncovering distinct progression patterns of tau deposition in progressive supranuclear palsy using [<sup>18</sup>F]Florzolotau PET imaging and subtype/stage inference algorithm
- Unexpected gender differences in progressive supranuclear palsy reveal efficacy for davunetide in women
- Utilizing speech analysis to differentiate progressive supranuclear palsy from Parkinson's disease
- Werdnig-Hoffmann Disease