Results 211 to 220 of about 1,154 (251)

Abnormal fatty acid metabolism in childhood spinal muscular atrophy

Annals of Neurology, 1999
Our previous experience with abnormal fatty acid metabolism in several children with spinal muscular atrophy (SMA) prompted evaluation of fatty acid metabolism in a larger cohort. Thirty-three infants with severe infantile SMA were shown to have a significantly increased ratio of dodecanoic to tetradecanoic acid in plasma compared with normal infants ...
T O, Crawford, J T, Sladky, O, Hurko, A, Besner-Johnston, R I, Kelley   +4 more
openaire   +2 more sources

Bedside evaluation of large motor units in childhood spinal muscular atrophy

Neurology, 1979
One hundred patients with motor unit disease were examined to determine the diagnostc reliability of several clinical signs of large motor units. These signs were high-intensity, low-pitched rumbling on skeletal muscle auscultation, voluntary contraction fasciculations, contraction fasciculation trembling, and palpable contraction fasciculations. Among
E J, Fredericks, B S, Russman
openaire   +2 more sources

Microcephaly and Mental Subnormality in Chronic Progressive Spinal Muscular Atrophy of Childhood

Developmental Medicine & Child Neurology, 1967
SUMMARYA wide variety of clinical manifestations are encountered in the various forms of progressive spinal muscular atrophy of childhood. The family reported here illustrates the relatively slowly progressive form of this disease. The presence of mental subnormality and microcephaly in this family is an unusual finding.Electromyographic and or muscle ...
A J, Spiro, M H, Fogelson, A C, Goldberg
openaire   +2 more sources

Prenatal prediction of childhood‐onset spinal muscular atrophy (SMA) in Turkish families

Prenatal Diagnosis, 2002
AbstractChildhood‐onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA‐determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important.
Savas, S, Eraslan, S, Kantarci, S, Karaman, B, Acarsoz, D, Tukel, T, Cogulu, O, Özkınay, F, Basaran, S, Aydinli, K, Yuksel-Apak, M, Kirdar, B   +11 more
openaire   +4 more sources

Electrophysiological findings in childhood spinal muscular atrophies.

Revue neurologique, 1989
The aim of this study was to evaluate in indirect way through electrical activity of muscles and nerves the state of motoneuron in different forms of childhood spinal proximal muscular atrophies (SMA). The material comprised 454 cases of SMA type Ia (Werdnig-Hoffmann) types Ib + II (intermediate form) and type III (Kugelberg-Welander form).
openaire   +1 more source

Spinal Muscular Atrophy in Childhood

Developmental Medicine & Child Neurology, 1979
openaire   +1 more source

Spinal muscular atrophy in childhood - actual treatment options 

Neurologie pro praxi, 2022
Jana Haberlová, Petra Hedvičáková, Petra Fuchsová, Markéta Jílková, Lucie Holubová, Tereza Doušová   +5 more
openaire   +1 more source

Phenotype and genotype correlation in childhood spinal muscular atrophy.

Neurologia i neurochirurgia polska, 2002
In the period 1998-2000 almost all new cases of childhood spinal muscular atrophy (SMA) in addition to those from our database were studied for possible deletion of SMN gene (exons 7 a 8) and NAIP (exons 5 a 6). We correlated the size of deletion with the type, course and the onset of disease.
openaire   +1 more source

PROGRESSIVE SPINAL MUSCULAR ATROPHY IN INFANCY AND CHILDHOOD

Acta Neurologica Scandinavica, 2009
openaire   +2 more sources

CHILDHOOD SPINAL MUSCULAR ATROPHY

Continuum, 1997
openaire   +1 more source