Results 231 to 240 of about 1,822 (274)

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

A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases

Brain and Development, 1994
The aim of this study is to evaluate 75 patients affected by childhood-onset spinal muscular atrophy (SMA), using the diagnostic criteria and classification recently suggested by the International SMA Collaboration Consortium. Sex predominance, age of onset, clinical evaluation and other relevant clinical data of the disease are reported.
Parano E, FIUMARA, Agata, Falsaperla R, Pavone L.   +3 more
openaire   +5 more sources

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw

Human Genetics, 1990
This study provides epidemiological data on acute infantile (ASMA) and chronic childhood spinal (CSMA) muscular atrophy in Warsaw for the period 1976-1985. All calculations are based on the assumption that ASMA and CSMA result from mutations at two different gene loci.
Aribert W. J. Spiegler, Anna Kłopocka, Irena Hausmanowa-Petrusewicz, Janina Borkowska   +3 more
openaire   +3 more sources

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Gene, 2012
Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms.
Khaled R. Gaber, Ashraf A. El-Harouni, Mona L. Essawi, Ghada M. Al-Attribi   +3 more
openaire   +3 more sources

Chronic childhood spinal muscular atrophy in Germany (West-Th�ringen) ? an epidemiological study

Human Genetics, 1994
This study presents the most extensive epidemiological data on chronic forms of spinal muscular atrophy in childhood (CSMA) in West-Thüringen in Germany. The incidence of CSMA was calculated to be 1 in 9,420 live births. The prevalence was 1.624 in 100,000 of the general population (as of 31 December 1980).
Beate Mitulla, Aribert W. J. Spiegler, Andrea Thieme, Friedemann Schulze   +3 more
openaire   +3 more sources

Minipolymyoclonus

Neurology, 1970
SUMMARYMinipolymyoclonus is a descriptive term for a movement disorder observed in the relatively benign form of childhood spinal muscular atrophy. When present, these movements are useful in differentiating this group of disorders from myopathies.
openaire   +2 more sources

Oncologic emergencies and urgencies: A comprehensive review

Ca-A Cancer Journal for Clinicians, 2022
David E Gerber, Jason J Bischof
exaly  

Drug delivery to the central nervous system

Nature Reviews Materials, 2021
, Suzie H Pun
exaly  

Regulation of axonal regeneration after mammalian spinal cord injury

Nature Reviews Molecular Cell Biology, 2023
Binhai Zheng, Mark H Tuszynski
exaly  

Spinal Muscular Atrophy in Childhood

Developmental Medicine & Child Neurology, 1979
openaire   +2 more sources