Results 111 to 120 of about 1,276 (185)

Letter re: Aseptic pleocytosis can only be classified as a phenotypic manifestation of MNGIE after exclusion of all differential causes. [PDF]

J Cent Nerv Syst Dis
Finsterer J, Mehri S.
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

Cholesterol in Mitochondrial Diseases-Friend or Foe? [PDF]

Int J Mol Sci
Taylor M, Halicki M, Chazot P.
europepmc   +1 more source

A rare <i>de novo</i> mutation, m.1630A>G, in the mitochondrial tRNAVal (<i>MT-TV</i>) gene in a child with epilepsy: case report and review of the literature. [PDF]

Transl Pediatr
Wang Q, Chen Y, Li J, Li B.
europepmc   +1 more source

Role of mitochondria in neuronal function and survival in the enteric and central nervous systems. [PDF]

Cell Mol Life Sci
Kural I, M Mombeek LM, Wilson DM.
europepmc   +1 more source

Mitochondrial genomic alterations in cholangiocarcinoma cell lines. [PDF]

PLoS One
Faipan A, Sitthirak S, Wangwiwatsin A, Namwat N, Klanrit P, Titapun A, Jareanrat A, Thanasukarn V, Khuntikeo N, Boulter L, Dokduang H, Loilome W.   +11 more
europepmc   +1 more source

Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency. [PDF]

Am J Med Genet A
Kilich G, Jadhav T, Maurer K, Breen C, Jammihal T, Schindewolf E, Ganetzky RD, Vanderver A, Skraban C, Rajagopalan R, Sullivan KE.   +10 more
europepmc   +1 more source

Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies. [PDF]

Mol Ther
Garone C, Sabeni S, Carli S.
europepmc   +1 more source

Prenatal Diagnosis and Perinatal Outcomes of Posterior Fossa Anomalies in a Tertiary Referral Center: A Five-Year Experience. [PDF]

Medicina (Kaunas)
Alpay V, Ersan F, Boza B, Makul M, Polat İ, Gümüş AA.   +5 more
europepmc   +1 more source

Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report. [PDF]

Ann Transplant
Kubal CA, Mihaylov P, Snook R, Soma D, Saeed O, Rokop Z, Lacerda M, Graham BH, Mangus RS.   +8 more
europepmc   +1 more source