BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 10423316)

  • 21. [Werdnig-Hoffmann disease type I with progressive ophthalmoplegia and ptosis].
    Ohkura M; Mitsudome A; Yasumoto S; Ogawa A
    No To Hattatsu; 1996 Jul; 28(4):332-5. PubMed ID: 8753133
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.
    Melki J; Abdelhak S; Burlet P; Raclin V; Kaplan J; Spiegel R; Gilgenkrantz S; Philip N; Chauvet ML; Dumez Y
    J Med Genet; 1992 Mar; 29(3):171-4. PubMed ID: 1348092
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.
    Dubowitz V
    Eur J Paediatr Neurol; 1999; 3(2):49-51. PubMed ID: 10700538
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes.
    Stipoljev F; Sertić J; Latin V; Rukavina-Stavljenić A; Kurjak A
    Croat Med J; 1999 Sep; 40(3):433-7. PubMed ID: 10411975
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset].
    González De Dios J; Martínez Frías ML; Arroyo Carrera I; Fondevilla Saucí J; Sanchís Calvo A; Hernández Ramón F; Martínez Guardia N; García González MM
    An Esp Pediatr; 2002 Mar; 56(3):233-40. PubMed ID: 11864521
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.
    Grotto S; Cuisset JM; Marret S; Drunat S; Faure P; Audebert-Bellanger S; Desguerre I; Flurin V; Grebille AG; Guerrot AM; Journel H; Morin G; Plessis G; Renolleau S; Roume J; Simon-Bouy B; Touraine R; Willems M; Frébourg T; Verspyck E; Saugier-Veber P
    J Neuromuscul Dis; 2016 Nov; 3(4):487-495. PubMed ID: 27911332
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Indirect molecular-genetic family study and prenatal diagnosis of infantile spinal muscular atrophy].
    Heber U; Müller CR
    Klin Padiatr; 1994; 206(1):30-5. PubMed ID: 8152204
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
    Gilliam TC; Brzustowicz LM; Castilla LH; Lehner T; Penchaszadeh GK; Daniels RJ; Byth BC; Knowles J; Hislop JE; Shapira Y
    Nature; 1990 Jun; 345(6278):823-5. PubMed ID: 1972783
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
    García-Cabezas MA; García-Alix A; Martín Y; Gutiérrez M; Hernández C; Rodríguez JI; Morales C
    Acta Neuropathol; 2004 May; 107(5):475-8. PubMed ID: 14968368
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Cardiac pathology in spinal muscular atrophy: a systematic review.
    Wijngaarde CA; Blank AC; Stam M; Wadman RI; van den Berg LH; van der Pol WL
    Orphanet J Rare Dis; 2017 Apr; 12(1):67. PubMed ID: 28399889
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.
    Rudnik-Schöneborn S; Goebel HH; Schlote W; Molaian S; Omran H; Ketelsen U; Korinthenberg R; Wenzel D; Lauffer H; Kreiss-Nachtsheim M; Wirth B; Zerres K
    Neurology; 2003 Mar; 60(6):983-7. PubMed ID: 12654964
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [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]  

  • 33. [Contribution of the electromyogram in the diagnosis of infantile spinal muscular atrophy in the neonatal period].
    Renault F; Chartier JP; Harpey JP
    Arch Pediatr; 1996 Apr; 3(4):319-23. PubMed ID: 8762951
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Infantile spinal muscular atrophy : therapeutic (R)evolution].
    Daron A; Delstanche S; Dangouloff T; Servais L
    Rev Med Liege; 2019 Feb; 74(2):82-85. PubMed ID: 30793560
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding.
    Birnkrant DJ; Pope JF; Martin JE; Repucci AH; Eiben RM
    Pediatr Neurol; 1998 May; 18(5):407-10. PubMed ID: 9650680
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Early diaphragmatic paralysis. In infants with genetic disorders.
    Sivan Y; Galvis A
    Clin Pediatr (Phila); 1990 Mar; 29(3):169-71. PubMed ID: 2407409
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Infantile spinal muscular atrophy].
    Barois A; Estournet B; Duval-Beaupère G; Bataille J; Leclair-Richard D
    Rev Neurol (Paris); 1989; 145(4):299-304. PubMed ID: 2660222
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
    Burlet P; Bürglen L; Clermont O; Lefebvre S; Viollet L; Munnich A; Melki J
    J Med Genet; 1996 Apr; 33(4):281-3. PubMed ID: 8730281
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.
    Bertini E; Gadisseux JL; Palmieri G; Ricci E; Di Capua M; Ferriere G; Lyon G
    Am J Med Genet; 1989 Jul; 33(3):328-35. PubMed ID: 2801766
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [A case of spinal muscular atrophy type 0 in Japan].
    Okamoto K; Saito K; Sato T; Ishigaki K; Funatsuka M; Osawa M
    No To Hattatsu; 2012 Sep; 44(5):387-91. PubMed ID: 23012868
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.