Results 91 to 100 of about 1,085 (157)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM. [PDF]

Ann Clin Transl Neurol
Sala-Coromina J, Marcé-Grau A, Masotto B, Codina M, BenJemaa L, Elaribi Y, Martinez-Gallo M, Colobran R, Sanchez-Montañez A, Valenzuela I, Murakami Y, Macaya A.   +11 more
europepmc   +1 more source

Clinical Reasoning: A 63-Year-Old Female Patient Presenting With Orthostatic Hypotension and Ataxia. [PDF]

Neurology
Shen F, Graham EL, Opal P.
europepmc   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp). [PDF]

Ann Clin Transl Neurol
Hu J, Huang L, Zhu W, Peng M, Gong Q, Qian J.   +5 more
europepmc   +1 more source

Evaluating the effects of pro-myelinating drugs on motor function and myelination in a zebrafish model of genetic leukoencephalopathy. [PDF]

Neurosci Lett
Banerjee S, Berry Y, Fisher E, Thummel R.   +3 more
europepmc   +1 more source

CADASIL Type 2 ( HTRA1 Cerebral Small Vessel Disease) in an Indian Woman. [PDF]

Ann Indian Acad Neurol
Maramattom BV.
europepmc   +1 more source

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4. [PDF]

BMJ Case Rep
Gowda VK, Varghese A, Kinhal UV, Srinivasan VM, Nayyer A.   +4 more
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

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. [PDF]

J Med Case Rep
Schacht G, Elbracht M, Minder AE, Stauch T, Stoppe A, Lausberg E, Häusler M.   +6 more
europepmc   +1 more source

Heterozygous TREM2 (p.W44X) and PSEN1 (p.A431T) mutations in two Peruvian families with familial Alzheimer's disease: expanding the genetic landscape in underrepresented populations. [PDF]

Front Neurosci
Villegas-Llerena C, Paredes-Moscosso SR, Guevara-Fujita ML, Obispo D, Custodio N, Montesinos R, Parodi JF, Flores-Flores O, Hardy J, Fujita R.   +9 more
europepmc   +1 more source

Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders. [PDF]

Eur J Hum Genet
Ahmad N, Aleem T, Liu C, Rashid M, Tehreem J, Junaid MAM, Asif MF, Ullah S, Ullah S, Afridi TUK, Baig UR, Tariq M, Khan TN, Green L, Poulter JA, Malik NA.   +15 more
europepmc   +1 more source