Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Annals of Neurology

Volumn 47, Issue 6, 2000, Pages 792-800

  Nishino, Ichizo ^a   Spinazzola, Antonella ^a   Papadimitriou, Alexandros ^b   Hammans, Simon ^c   Steiner, Israel ^d   Hahn, Cecil D ^e   Connolly, Anne M ^f   Verloes, Alain ^g   Guimarães, João ^h   Maillard, Ivan ⁱ   Hamano, Hitoshi ^j   Donati, M Alice ^k   Semrad, Carol E ^a   Russell, James A ^l   Andreu, Antonio L ^a   Hadjigeorgiou, Giorgos M ^b   Vu, Tuan H ^a   Tadesse, Saba ^a   Nygaard, Torbjoern G ^m   Nonaka, Ikuya ⁿ   Hirano, Ikuo ^o   Bonilla, Eduardo ^a   Rowland, Lewis P ^a   Dimauro, Salvatore ^a   Hirano, Michio ^a   more..

^a New York Presbyterian Columbia University Medical Center   (United States)

^b University of Thessaly School of Medicine   (Greece)

^c SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF LIÈGE   (Belgium)

^h HOSPITAL EGAS MONIZ   (Portugal)

ⁱ LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^j TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^k Dipto di Pediatria Cesare Cocchi   (Italy)

^l LAHEY HOSPITAL AND MEDICAL CENTER   (United States)

^m INSTITUTE OF OPHTHALMOLOGY AND VISUAL SCIENCE   (United States)

ⁿ NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^o NORTHWESTERN UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; THYMIDINE PHOSPHORYLASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; MALE; PATHOGENESIS; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; BLEPHAROPTOSIS; ETHNIC GROUPS; EXONS; FEMALE; GASTROINTESTINAL DISEASES; GENES, RECESSIVE; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; INTRONS; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION; NUCLEAR FAMILY; OPEN READING FRAMES; OPHTHALMOPLEGIA; POINT MUTATION; SEQUENCE DELETION; SYNDROME; THYMIDINE PHOSPHORYLASE;

EID: 0034096975     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200006)47:6<792::AID-ANA12>3.0.CO;2-Y     Document Type: Article

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