Results 121 to 130 of about 5,681 (206)

Van der Knaap Disease Unveiled: A Radiological-Genomic Journey From Seizure to Diagnosis. [PDF]

Cureus
Jaiswal M, Yadav A, Goyal BR, Mathur A, Chand G.   +4 more
europepmc   +1 more source

Ion Channels and Neurological Disease-2nd Edition. [PDF]

Life (Basel)
Musio C, Martina M.
europepmc   +1 more source

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
europepmc   +1 more source

Fulminant early-onset subacute sclerosing panencephalitis masquerading as leukodystrophy: a diagnostic challenge. [PDF]

Clin Exp Pediatr
Ragunathan K, Boruah DK, Veeraraghavan V, Kaushik JS.   +3 more
europepmc   +1 more source

Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]

World J Clin Pediatr
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S.   +5 more
europepmc   +1 more source

Finding comfort in complexity: The role of palliative care in children with leukodystrophy. [PDF]

Mol Genet Metab
Bishop C, Nguyen V, D'Souza T, Yu D, Johnson L, Keller S.   +5 more
europepmc   +1 more source

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms. [PDF]

Clin Genet
Acquaviva F, Troisi S, Errichiello G, Russo C, Covelli EM, Siano MA, Manna MR, Tirozzi A, De Brasi D, Varone A.   +9 more
europepmc   +1 more source

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum. [PDF]

Cureus
Nikam R, Eghbal A, Sanger T, Garavatti E.   +3 more
europepmc   +1 more source

Pathology of leukodystrophies in childhood

Brain and Development, 1987
openaire   +2 more sources

Leukodystrophies

, 2008
Frank Gaillard, Rohit Sharma, Tariq Walizai   +2 more
openaire   +2 more sources