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

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter

(2016) Manoj P. Menezes et al.   CLINICAL NEUROPHYSIOLOGY

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

(2016) Ozden O. Horoz et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

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

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

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

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

(2014) Rosalba Carrozzo et al.   MITOCHONDRION

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

Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features

(2013) Carlotta Spagnoli et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Brown-Vialetto-Van Laere Syndrome: Clinical and Neuropathologic Findings with Immunohistochemistry for C20orf54 in Three Affected Patients

(2013) Patrick Malafronte et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

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

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

(2012) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

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

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

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

(2012) Tobias B. Haack et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

(2012) Marianna Ciccolella et al.   JOURNAL OF MEDICAL 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

Brown-Vialetto-Van Laere Syndrome: A Riboflavin-Unresponsive Patient With a Novel Mutation in the C20orf54 Gene

(2012) Anne Koy et al.   PEDIATRIC NEUROLOGY

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome

(2011) GEETHA ANAND et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood

(2011) Carlotta Spagnoli et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

Identification and Comparative Functional Characterization of a New Human Riboflavin Transporter hRFT3 Expressed in the Brain

(2010) Yoshiaki Yao et al.   JOURNAL OF NUTRITION

Identification and Functional Characterization of Rat Riboflavin Transporter 2

(2009) S. Yamamoto et al.   JOURNAL OF BIOCHEMISTRY

Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1

(2008) Atsushi Yonezawa et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY