BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 13729575)

  • 1. Cerebellar hypoplasia in Werdnig-Hoffmann disease.
    NORMAN RM
    Arch Dis Child; 1961 Feb; 36(185):96-101. PubMed ID: 13729575
    [No Abstract]   [Full Text] [Related]  

  • 2. CEREBELLO-THALAMO-SPINAL DEGENERATION IN INFANCY: AN UNUSUAL VARIANT OF WERDNIG-HOFFMANN DISEASE.
    NORMAN RM; KAY JM
    Arch Dis Child; 1965 Jun; 40(211):302-8. PubMed ID: 14294750
    [No Abstract]   [Full Text] [Related]  

  • 3. The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.
    Vinograd-Byk H; Sapir T; Cantarero L; Lazo PA; Zeligson S; Lev D; Lerman-Sagie T; Renbaum P; Reiner O; Levy-Lahad E
    J Neurosci; 2015 Jan; 35(3):936-42. PubMed ID: 25609612
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Cerebral agyria-pachygyria in a child with Werdnig-Hoffmann disease].
    Cneude F; Sukno S; Boidein F; Dehouck MB; Bourlet A; Vittu G
    Rev Neurol (Paris); 1999 Sep; 155(8):589-91. PubMed ID: 10486849
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [CASE OF MYELOPATHIC MUSCULAR ATROPHY THOUGHT AT FIRST TO BE PROGRESSIVE MUSCULAR DYSTROPHY--A VIEW OF THE RELATION BETWEEN KUGELBERG-WELANDER'S MUSCULAR ATROPHY AND WERDNIG-HOFFMANN DISEASE].
    FURUKAWA S; MAMIYA S
    Nihon Shonika Gakkai Zasshi; 1963 Nov; 67():745-8. PubMed ID: 14096316
    [No Abstract]   [Full Text] [Related]  

  • 6. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
    Boczonadi V; Müller JS; Pyle A; Munkley J; Dor T; Quartararo J; Ferrero I; Karcagi V; Giunta M; Polvikoski T; Birchall D; Princzinger A; Cinnamon Y; Lützkendorf S; Piko H; Reza M; Florez L; Santibanez-Koref M; Griffin H; Schuelke M; Elpeleg O; Kalaydjieva L; Lochmüller H; Elliott DJ; Chinnery PF; Edvardson S; Horvath R
    Nat Commun; 2014 Jul; 5():4287. PubMed ID: 24989451
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy.
    de León GA; Grover WD; D'Cruz CA
    Acta Neuropathol; 1984; 63(4):282-6. PubMed ID: 6475488
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Electromyogram and Werdnig-Hoffmann disease].
    GAUDIER B; MILBLED G; RAMEZ T
    J Radiol Electrol Med Nucl; 1962; 43():426-8. PubMed ID: 13897277
    [No Abstract]   [Full Text] [Related]  

  • 9. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants.
    Goutières F; Aicardi J; Farkas E
    J Neurol Neurosurg Psychiatry; 1977 Apr; 40(4):370-8. PubMed ID: 874513
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Infantile spinal muscular atrophy. Description of 2 cases of Werdnig-Hoffmann disease].
    Priora U; Quaglia P; Vivalda M; Giachino-Amistà MT; Domeneghetti G; Sardi R
    Minerva Pediatr; 1987 Sep; 39(17-18):709-14. PubMed ID: 3437861
    [No Abstract]   [Full Text] [Related]  

  • 11. Cerebellar hypoplasia in Werdnig-Hoffmann disease.
    Weinberg AG; Kirkpatrick JB
    Dev Med Child Neurol; 1975 Aug; 17(4):511-6. PubMed ID: 1158057
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Myatonia congenita Oppenheim, with special reference to its relation to Werdnig-Hoffmann disease].
    FUKUYAMA Y
    Sogo Igaku; 1961 Oct; 18():671-82. PubMed ID: 13895848
    [No Abstract]   [Full Text] [Related]  

  • 13. Cerebellar hypoplasia and degeneration in the kitten.
    BLOOD DC
    Aust Vet J; 1946 Aug; 22(4):120. PubMed ID: 20290809
    [No Abstract]   [Full Text] [Related]  

  • 14. [Two cases with lissencephaly associated cerebellar hypoplasia related to RELN variation].
    Gao SS; Bai ZX; Kong XD
    Zhonghua Er Ke Za Zhi; 2020 Mar; 58(3):238-240. PubMed ID: 32135599
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [A newborn child with Werdnig-Hoffmann's disease (infantile spinal muscular atrophy)].
    WILLEMSE J
    Ned Tijdschr Geneeskd; 1961 Feb; 105():243-5. PubMed ID: 13785363
    [No Abstract]   [Full Text] [Related]  

  • 16. [Craniostenosis, lack of marrow formation in the brain; Abnormalities of the cortex and hypoplasia cerebelli].
    DE LANGE C
    Ann Paediatr; 1948 Aug; 171(2):65-81. PubMed ID: 18880056
    [No Abstract]   [Full Text] [Related]  

  • 17. Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance.
    Boylan KB; Cornblath DR
    Ann Neurol; 1992 Sep; 32(3):404-7. PubMed ID: 1416812
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cerebellar hypoplasia in a case with neurofibromatosis type 1.
    Işikay S
    BMJ Case Rep; 2013 Dec; 2013():. PubMed ID: 24311430
    [No Abstract]   [Full Text] [Related]  

  • 19. [Werdnig-Hoffmann's infantile progressive muscular atrophy; clinical aspects, pathology, heredity, and relation to Oppenheim's amyotonia congenita and other morbid conditions with laxity of the joints or muscles in children].
    BRANDT S
    Nord Med; 1950 Sep; 44(37):1499. PubMed ID: 14806955
    [No Abstract]   [Full Text] [Related]  

  • 20. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
    Töpf A; Pyle A; Griffin H; Matalonga L; Schon K; ; ; Sickmann A; Schara-Schmidt U; Hentschel A; Chinnery PF; Kölbel H; Roos A; Horvath R
    Eur J Hum Genet; 2021 Sep; 29(9):1348-1353. PubMed ID: 34075209
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.