Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment

(2020) Christophe Carreau et al.   Annals of Clinical and Translational Neurology

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

(2019) Benjamin O'Callaghan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dramatic improvement of a rare syndrome with high dose riboflavin treatment

(2018) Eva B Forman et al.   PEDIATRIC NEUROLOGY

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

(2018) Shaakira Chaya et al.   Seminars in Pediatric Neurology

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

(2018) Ian R. Woodcock et al.   Seminars in Pediatric Neurology

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature

(2017) Tyler Allison et al.   JOURNAL OF CHILD NEUROLOGY

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

(2016) Bregje Jaeger et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Adult onset Brown–Vialetto–Van Laere syndrome with opsoclonus and a novel heterozygous mutation: A case report

(2015) Jeremy Cosgrove et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Auditory neuropathy spectrum disorder with Brown–Vialetto–Van Laere syndrome: challenges in hearing rehabilitation

(2015) R Chandran et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

The expanding syndrome of amyotrophic lateral sclerosis: a clinical and molecular odyssey

(2015) Martin R Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Brown-Vialetto-Van Laere syndrome: a 28-year follow-up

(2015) A Davis et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

(2014) Myriam Srour et al.   MUSCLE & NERVE

The human flavoproteome

(2013) Wolf-Dieter Lienhart et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

Novel riboflavin transporter family RFVT/SLC52: Identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52

(2013) Atsushi Yonezawa et al.   MOLECULAR ASPECTS OF MEDICINE

Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

(2013) Monica Bandettini Di Poggio et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients

(2012) Mitra Ansari Dezfouli et al.   JOURNAL OF HUMAN GENETICS

Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study

(2012) Marianna Ciccolella et al.   NEUROMUSCULAR DISORDERS

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

(2012) Annet M Bosch et al.   Orphanet Journal of Rare Diseases

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

(2010) Janel O. Johnson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

(2010) Peter Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE