Results 171 to 180 of about 21,243 (259)

Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL [PDF]

, 2016
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bullé Oliveira   +2 more
openalex   +1 more source

Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings

, 2023
Fan Yang, Huaqin Sun, Yanting Yang, Yanan Wang, Siyu Dai, Ziyuan Lin, Ying Shen, Hongqian Liu   +7 more
openalex   +1 more source

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings. [PDF]

Cureus
Mani Jacob D, Nagarajan DR, Kakade SJ.
europepmc   +1 more source

Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies

, 2013
Catarina Oliveira Miranda, Pedro Brites, Mónica Mendes Sousa, Carla Andreia Teixeira   +3 more
openalex   +2 more sources

Mutation in PYCR2 gene and hypomyelinating leukodystrophy in children: a case report study

, 2023
Seyed Ahmad Hosseini, Mousa Ghelichi-Ghojogh   +1 more
openalex   +1 more source

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy. [PDF]

Cureus
Bhimanadham VM, Panicker GJ.
europepmc   +1 more source

One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy. [PDF]

Am J Ophthalmol Case Rep
Mylonas G, Dimakopoulou I, Iby J, Deak G, Hollaus M, Buehl W, Lehner R, Ritter M, Weigert G, Schmidt-Erfurth U, Sacu S.   +10 more
europepmc   +1 more source

Vanishing white matter leukodystrophy, a rare case report

, 2013
Serhat Güler, Adnan Yüksel, Akıi Iscan, İlhan Işık, Burak Tatlı   +4 more
openalex   +2 more sources

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Effects of transgenic overexpression of polysialyltransferase (PST) on myelination and impacts of increased sulfatide accumulation in arylsulfatase A deficient mice and its relevance to human metachromatic leukodystrophy

, 2007
Hariharasubramanian Ramakrishnan
openalex   +1 more source