Results 141 to 150 of about 1,722 (231)

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies. [PDF]

Genes (Basel)
Škarica M, Acsadi G, Živković SA.
europepmc   +1 more source

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy. [PDF]

Metabolites
Paprocka J, Karpierz J, Hutny M, Hofman-Hutna J, Dobosz A.   +4 more
europepmc   +1 more source

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy. [PDF]

Eur J Pediatr
Mercuri E, Coratti G, Cutrona C, De Sanctis R, Stanca G, Cicala G, Villa M, Capasso A, Arpaia C, Sbarbati M, Krosschell K, Romeo D, Berti B, Finkel R, Pane M.   +14 more
europepmc   +1 more source

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0. [PDF]

Mol Genet Genomic Med
Stokes S, Snipes M, Moore LD, Schlabritz-Lutsevich N, Amy V, Maher J.   +5 more
europepmc   +1 more source

Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III. [PDF]

Rev Neurol
García Estévez DA.
europepmc   +1 more source

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report. [PDF]

BMC Anesthesiol
Chen Z, Chen X, Liang X, Niu Q, Chan Y, Xu X.   +5 more
europepmc   +1 more source

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy. [PDF]

Sci Rep
Buchignani B, Coratti G, Cutrì C, Scattoni ML, Pane M, Palermo C, Leone D, De Sanctis R, Stanca G, Antonaci L, Cutrona C, Pera MC, Brogna C, Cristofani P, Fulceri F, Baranello G, Mercuri E.   +16 more
europepmc   +1 more source

Genotype-phenotype correlations in 18 European patients with heterozygous <i>KIF1A</i> variants: key considerations for assessing <i>KIF1A</i> variant causality. [PDF]

Front Med (Lausanne)
Uhrova Meszarosova A, Galiart E, Lassuthova P, Kolokotronis K, Seidl B, Musilova A, Peckova A, Takacsova A, Vyhnalkova E, Grecmalova D, Vlckova E, Skutilova V, Steindl K, Rauch A, Stettner GM, Safka Brozkova D.   +15 more
europepmc   +1 more source

Modern Surgery - Chapter 17. Tumors, or Morbid Growths [PDF]

, 1903
Da Costa, John Chalmers
core   +1 more source

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]

BMC Neurol
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source