Results 201 to 210 of about 24,692 (277)

소아 신경영상에서 보이는 비선천성 원인의 영상 소견: 임상 화보. [PDF]

J Korean Soc Radiol
Gala F, Jain N, Salunke N.
europepmc   +1 more source

Editorial: Advances in systems neurogenetics. [PDF]

Front Neurosci
Carney P, Zhang B.
europepmc   +1 more source

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter. [PDF]

Neurology
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS.   +37 more
europepmc   +1 more source

Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI. [PDF]

Anal Bioanal Chem
Hunter SN, Wang MF, Thomas BN, Filiano AJ, Muddiman DC.   +4 more
europepmc   +1 more source

Infantile-Onset Vanishing White Matter Disease in an Azerbaijani Infant With a Homozygous EIF2B5 p.(Arg195His) Variant. [PDF]

Cureus
Isayev C, Haciyeva I, Hasanov E, Hasanova F, Samadov P.   +4 more
europepmc   +1 more source

Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care Situation. [PDF]

J Clin Med
Kokaly N, Guerreiro H, Bredow J, Dreha-Kulaczewski S, Ohlenbusch A, Köhler W, Reinhardt T, Schön G, Volk AE, Sigel H, Bley A.   +10 more
europepmc   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +1 more source

"Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy. [PDF]

Mov Disord Clin Pract
Marsili L, Kauffman MA, Talavera de la Esperanza B, Yu Z, Gilbert DL, Espay AJ.   +5 more
europepmc   +1 more source

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report". [PDF]

Tremor Other Hyperkinet Mov (N Y)
Sánchez-Román EJ, Villa-Villegas L, Leal-Ortega R, Lira-Jaime LG, Rivas-Ruvalcaba F, Díaz-Ramírez K, Piña-Avilés CE, Mercado-Pimentel R, Zúñiga-Ramírez C.   +8 more
europepmc   +1 more source