These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 8888051)

  • 1. Mitochondrial myopathy simulating spinal muscular atrophy.
    Pons R; Andreetta F; Wang CH; Vu TH; Bonilla E; DiMauro S; De Vivo DC
    Pediatr Neurol; 1996 Sep; 15(2):153-8. PubMed ID: 8888051
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.
    Paul DA; Goldsmith LS; Miles DK; Moser AB; Spiro AJ; Grover WD
    Pediatr Neurol; 1993; 9(6):496-7. PubMed ID: 7605563
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial respiratory complex I deficiency simulating spinal muscular atrophy.
    Lee JS; Hwang JS; Ryu KH; Lee EH; Kim SH
    Pediatr Neurol; 2007 Jan; 36(1):45-7. PubMed ID: 17162196
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Clinical study of 83 cases with spinal muscular atrophy in children].
    Li H; Wang HL; Shan CM
    Zhonghua Er Ke Za Zhi; 2004 Oct; 42(10):762-4. PubMed ID: 16221347
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Synaptic defects in type I spinal muscular atrophy in human development.
    Martínez-Hernández R; Bernal S; Also-Rallo E; Alías L; Barceló MJ; Hereu M; Esquerda JE; Tizzano EF
    J Pathol; 2013 Jan; 229(1):49-61. PubMed ID: 22847626
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
    Herman I; Lopez MA; Marafi D; Pehlivan D; Calame DG; Abid F; Lotze TE
    Muscle Nerve; 2021 Mar; 63(3):304-310. PubMed ID: 33146414
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.
    Haliloglu G; Chattopadhyay A; Skorodis L; Manzur A; Mercuri E; Talim B; Akçören Z; Renda Y; Muntoni F; Topaloğlu H
    Neuropediatrics; 2002 Dec; 33(6):314-9. PubMed ID: 12571787
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion.
    Nevo Y; Soffer D; Kutai M; Zelnik N; Saada A; Jossiphov J; Messer G; Shaag A; Shahar E; Harel S; Elpeleg O
    J Child Neurol; 2002 Jul; 17(7):499-504. PubMed ID: 12269728
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spinal muscular atrophy in childhood.
    Fidziańska A
    Semin Pediatr Neurol; 1996 Jun; 3(2):53-8. PubMed ID: 8795842
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
    Tarnopolsky MA; Bourgeois JM; Fu MH; Kataeva G; Shah J; Simon DK; Mahoney D; Johns D; MacKay N; Robinson BH
    Am J Med Genet A; 2004 Mar; 125A(3):310-4. PubMed ID: 14994243
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Association of progressive myoclonic epilepsy and spinal muscular atrophy.
    Marjanovic B; Todorovic S; Dozic S
    Pediatr Neurol; 1993; 9(2):147-50. PubMed ID: 8499046
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.
    Omran H; Ketelsen UP; Heinen F; Sauer M; Rudnik-Schöneborn S; Wirth B; Zerres K; Kratzer W; Korinthenberg R
    J Child Neurol; 1998 Jul; 13(7):327-31. PubMed ID: 9701481
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
    Lohkamp LN; von Au K; Goebel HH; Kress W; Grieben U; Drossel K; Garbes L; Wirth B; Heppner FL; Stenzel W
    J Child Neurol; 2014 Feb; 29(2):254-9. PubMed ID: 24334346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy.
    Anagnostou E; Miller SP; Guiot MC; Karpati G; Simard L; Dilenge ME; Shevell MI
    J Child Neurol; 2005 Feb; 20(2):147-50. PubMed ID: 15794183
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
    Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B
    Hum Mol Genet; 1995 Oct; 4(10):1927-33. PubMed ID: 8595417
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene deletions in Arab patients with spinal muscular atrophy.
    Haider MZ; Moosa A
    J Child Neurol; 1997 Aug; 12(5):310-3. PubMed ID: 9378898
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia.
    Takei Y; Ikeda S; Yanagisawa N; Takahashi W; Sekiguchi M; Hayashi T
    Muscle Nerve; 1995 Nov; 18(11):1321-5. PubMed ID: 7565930
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spinal muscular atrophy in trizygotic triplets.
    Komatsu H; Takeuchi Y; Miyanomae Y; Yoshioka H; Daniels R; Davies KE; Sawada T
    Acta Paediatr Jpn; 1994 Oct; 36(5):522-6. PubMed ID: 7825456
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial myopathy mimicking fibromyalgia syndrome.
    Villanova M; Selvi E; Malandrini A; Casali C; Santorelli FM; De Stefano R; Marcolongo R
    Muscle Nerve; 1999 Feb; 22(2):289-91. PubMed ID: 10024147
    [No Abstract]   [Full Text] [Related]  

  • 20. Muscle biopsy and the clinical course of infantile spinal muscular atrophy.
    Zalneraitis EL; Halperin JJ; Grunnet ML; Russman BS; Peress N
    J Child Neurol; 1991 Oct; 6(4):324-8. PubMed ID: 1940134
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.