Results 151 to 160 of about 9,462 (208)

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy. [PDF]

Brain Commun
Rufa A, Plantone D, Bargagli A, Righi D, Bacci T, Serchi V, Primiano G, Gallus GN, Lopergolo D, Pretegiani E, Rosini F, Locci S, Tosi GM, De Stefano N.   +13 more
europepmc   +1 more source

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy. [PDF]

Diagnostics (Basel)
Wójcik-Niklewska B, Oliwa Z, Dzięcioł K, Smędowski A.   +3 more
europepmc   +1 more source

Case series: The value of fundus autofluorescence in inherited macular disease. [PDF]

Optom Vis Sci
Guro M, Wang H, Phu J, Patel NB, Sapoznik KA, Shah H, Kalloniatis M.   +6 more
europepmc   +1 more source

The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach. [PDF]

J Clin Med
Orsucci D, Caldarazzo Ienco E, Giuntini M, Vista M.   +3 more
europepmc   +1 more source

Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum. [PDF]

eNeurologicalSci
Toyoda N, Komiya H, Miyaji Y, Nishihama S, Takeda M, Asano T, Hashiguchi S, Takahashi K, Higashiyama Y, Fujita A, Matsumoto N, Doi H, Tanaka F.   +12 more
europepmc   +1 more source

Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols. [PDF]

Doc Ophthalmol
Padhy SK, Habjan MŠ, Constable PA.
europepmc   +1 more source

A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach. [PDF]

Ann Med Surg (Lond)
Khandelwal S, Kumar A, Sharma S, Kaur A, Bandyopadhyay AK.   +4 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

Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model. [PDF]

Front Neurosci
Gurram V, An W, Bimal S, Urano F.
europepmc   +1 more source

The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity. [PDF]

J Neurochem
Turner ED, Twelvetrees AE.
europepmc   +1 more source