Results 91 to 100 of about 520 (140)

SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. [PDF]

Clin Chim Acta, 2016
Udhayabanu T, Subramanian VS, Teafatiller T, Gowda VK, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B.   +7 more
europepmc   +1 more source

Late-onset Brown-Vialetto-Van Laere Syndrome with Electrophysiological Findings

Cyprus Journal of Medical Sciences, 2023
Ferda Selçuk, Mustafa Ertaş
openaire   +1 more source

Genetic Neuromuscular Disorders and Health Services Access, Utilization, and Needs in Zambia. [PDF]

Pediatr Neurol, 2023
Kapapa MM, Bearden DR, Somwe SW, Birbeck GL, Ramdharry G, ICGNMD Consortium, Kvalsund M.   +6 more
europepmc   +1 more source

Breath of Fresh Air: Toward Unraveling the Molecular Underpinnings of Sleep Apnea. [PDF]

Am J Respir Crit Care Med, 2022
Cade BE, Gharib SA.
europepmc   +1 more source

Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran.

J Pediatr Neurosci, 2013
Toopchizadeh V, Akbari MG, Habibzadeh A.
europepmc   +1 more source

Lingual Fasciculation as a Point of Call for the Diagnosis of Amyotrophic Lateral Sclerosis: A Literature Review. [PDF]

Cureus
Galeazzi L, Holzman J, Porporatti A, Rochefort J.   +3 more
europepmc   +1 more source

Update on Inherited Pediatric Motor Neuron Diseases: Clinical Features and Outcome. [PDF]

Genes (Basel)
Trabacca A, Ferrante C, Oliva MC, Fanizza I, Gallo I, De Rinaldis M.   +5 more
europepmc   +1 more source

PP-053 A case with brown vialetto van laere syndrome

Poster Presentation
Durmuş Bora Çağer, Melike Ersoy
openaire   +1 more source

Proteomic profiling reveals age-related changes in transporter proteins in the human blood-brain barrier. [PDF]

Sci Rep
Zhou X, Azimi M, Handin N, Riselli A, Vora B, Chun E, Dang Z, Huang E, Yee SW, Artursson P, Giacomini KM.   +10 more
europepmc   +1 more source

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report. [PDF]

Am J Case Rep
Porowski M, Skarżyński H, Skarżyński PH.   +2 more
europepmc   +1 more source