Spinal muscular atrophy with autosomal dominant inheritance. Report of a new kindred.
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Adolescent↗
Biomedical subjects
H Zellweger
Publications and source records attributed to H Zellweger.
Down's syndrome and institutionalization.
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Down Syndrome↗
The floppy infant syndrome in muscular glycogenosis.
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Adult↗
[The floppy infant syndrome].
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Abnormalities, Multiple↗
The infantile proximal spinal muscular atrophies in Switzerland.
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Adolescent↗
[Prenatal sex determination and cytogenetics].
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Abortion, Spontaneous↗
Ribosomal protein synthesis in Duchenne muscular dystrophy.
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Amino Acids↗
Familial motor neuron disease, non-Chamorro type: report of kinship.
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Action Potentials↗
Mongolism preventable by amniocentesis. An appraisal of the genetic considerations.
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Adult↗
A new approach for carrier detection in Duchenne muscular dystrophy. Protein synthesis of muscle polyribosomes in vitro.
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Amino Acids↗
Trisomy E-trisomy G mosaicism. A report of two cases.
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Autoradiography↗
Prenatal genetics and cytogenetics.
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Abortion, Spontaneous↗
Plasma androgen and cytogenetic studies of a patient with Morgagni's syndrome.
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Adult↗
[Charcot-Marie-Tooth disease with early onset. Presentation of a family].
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Adult↗
Observations on the electrocardiogram in Duchenne's progressive muscular dystrophy.
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Adolescent↗
The genetic heterogeneity of spinal muscular atrophy (SMA).
The clinical picture of the spinal muscular atrophy varies greatly with respect to age of onset, speed of progression, severity and distribution of muscular atrophy, weakness and contractures, yet cases occurring within a family usually show concordant clinical features. Thus, genetic heterogeneity has to be assumed. This is supported by the various genetic transmission patterns (autosomal dominant, recessive, X-linked recessive) found by accurate pedigree analysis.
Age Factors↗
Creatine phospholinase in normal neonates and young infants.
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Creatine Kinase↗
Prenatal determination of fetal sex and chromosomal complement.
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Amniotic Fluid↗