Juvenile onset proximal spinal muscular atrophy with autosomal dominant inheritance
Sunohara, N.; Takada, K.; Ishihara, T.; Satoyoshi, E.
Rinsho Shinkeigaku 20(7): 547-554
1980
ISSN/ISBN: 0009-918X PMID: 7460425 Document Number: 159730
Document emailed within 1 workday
Related Documents
Ballauff, A.; Koletzko, S. 1999: Hereditary hemorrhagic telangiectasia with juvenile polyposis--coincidence or linked autosomal dominant inheritance? Zeitschrift für Gastroenterologie 37(5): 385-388Jedrzejowska, M.; Madej-Pilarczyk, A.; Zimowski, J.; Hausmanowa-Petrusewicz, I. 2006: Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA Neurologia i Neurochirurgia Polska 40(5): 446-449
Al-Jumah, M.; Majumdar, R.; Al-Rajeh, S.; Awada, A.; Chaves-Carbello, E.; Salih, M.; Al-Shahwan, S.; Al-Subiey, K.; Al-Uthaim, S. 2003: Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy Saudi Medical Journal 24(10): 1052-1054
Knoblauch, H.; Urban, M.; Tinschert, S. 1999: Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters Genetic Counseling 10(3): 315-320
Tangheroni, W.; Cao, A.; Cianchetti, C.; Calisti, L. 1974: Type Ii proximal spinal muscular atrophy. Clinical, electrophysiological, histopathological and histochemical studies Minerva Pediatrica 26(22): 1125-1145
González De Dios, J.; Martínez Frías, M.L.; Arroyo Carrera, I.; Fondevilla Saucí, J.; Sanchís Calvo, A.; Hernández Ramón, F.; Martínez Guardia, N.; García González, M.M. 2002: Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset Anales Espanoles de Pediatria 56(3): 233-240
Mehta, A.; Merchant, R.H.; Desai, M.P. 1976: Juvenile spinal muscular atrophy (Wohlfart Kugelberg Welander Disease): a case report Indian Pediatrics 13(5): 387-388
Walsh, F.S.; Moore, S.E. 1986: Expression of muscle cell surface antigen 5.1H11 in infantile or juvenile spinal muscular atrophy Neurology 36(8): 1140-1142
Jaramillo, C.; Brandt, S.K.; Jorgenson, R.J. 1988: Autosomal dominant inheritance of the DeMyer Sequence Journal of Craniofacial Genetics and Developmental Biology 8(3): 199-204
Spiegel, A.M.; Harrison, H.E.; Marx, S.J.; Brown, E.M.; Aurbach, G.D. 1977: Neonatal primary hyperparathyroidism with autosomal dominant inheritance Journal of Pediatrics 90(2): 269-272
Cantú, J.M.; Gómez-Bustamente, M.O.; González-Mendoza, A.; Sánchez-Corona, J. 1978: Familial comedones. Evidence for autosomal dominant inheritance Archives of Dermatology 114(12): 1807-1809
Frisch, H.; Vormittag, W. 1975: Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance Zeitschrift für Kinderheilkunde 120(2): 141-150
Ibsen, H.H.; Clemmensen, O.J.; Brandrup, F. 1991: Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations Acta Dermato-Venereologica 71(4): 349-351
Lebedev, N.B.; Shcherbacheva, L.N.; Koledova, E.B.; Trofilmenko, E.V.; Maĭorov, A.I. 1994: Non-insulin-dependent diabetes mellitus in young patients with autosomal dominant inheritance Problemy Endokrinologii 40(1): 9-14
Kawai, H.; Akaike, M.; Yokoi, K.; Tamaki, Y.; Saito, S. 1993: Mitochondrial myopathy with autosomal dominant inheritance--report of a family and review of the literature Rinsho Shinkeigaku 33(2): 162-168
Zachara, E.; Bertini, E.; Lioy, E.; Boldrini, R.; Prati, P.L.; Bosman, C. 1997: Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance Giornale Italiano di Cardiologia 27(5): 436-442
Hordijk, R.; Van de Logt, F.; Houtman, W.A.; Van Essen, A.J. 1996: Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance Genetic Counseling 7(2): 113-122
Pfeiffer, R.A.; Verbeck, C. 1973: Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance Zeitschrift für Kinderheilkunde 115(3): 235-244
Ishikawa, K. 2001: Autosomal dominant cortical cerebellar atrophy (ADCCA) linked to chromosome 16q Rinsho Shinkeigaku 41(12): 1117-1119
Higashi, K.; Nakagawa, M.; Higuchi, I.; Saito, K.; Osame, M. 2000: Genetically confirmed spinal muscular atrophy type IIi with epilepsy, cerebral hypoperfusion, and parahippocampal gyrus atrophy Rinsho Shinkeigaku 40(4): 334-338