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Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus.
The obstetric histories of 26 women with myotonic dystrophy (DM), who had a total of 67 gestations, were reviewed retrospectively comparing gestations with affected (DM-fetuses) and unaffectedExpand
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Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies.
OBJECTIVE To increase the knowledge about pregnancy and delivery in women with certain muscle diseases, which is important for obstetric management and family planning of affected women. DESIGN TheExpand
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Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
We analysed the clinical picture of 101 sibs (43 sib pairs, 5 triplets) with autosomal recessive proximal spinal muscular atrophy (SMA). Linkage data of 20 sibships, which were available forExpand
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Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies.
The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q12.2-q13, within a genetic distance of about 6 cM, and is proximally flanked by theExpand
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Pregnancy and delivery in Charcot‐Marie‐Tooth disease type 1
We report the obstetric complications and the influence of pregnancy and delivery in 21 Charcot-Marie-Tooth disease type 1 (CMT 1) patients with 45 gestations. Sixteen patients had subjectiveExpand
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Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration
Two sisters with infantile OPCA plus spinal muscular atrophy (SMA) are reported. Both showed severe hypotonia and psychomotor delay from birth, and in addition, nystagmoid eye movements and visionExpand
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Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases
Prenatal prediction in families at risk for autosomal recessive proximal spinal muscular atrophy (SMA) mainly of type I is often requested due to the high incidence and the fatal outcome of theExpand
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Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments
Probe p13E‐11 (locus D4F104S1) detects two highly homologous polymorphic loci on chromosomes 4q35 and 10q26. Previous reports in the literature have described a correlation of shortened 4q35‐specificExpand
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Increased risk for abnormal placentation in women affected by myotonic dystrophy
The obstetric histories of 26 women with myotonic dystrophy, who had a total of 66 life births, were reviewed by means of questionnaires and medical reports. Six patients (23%) each had one pregnancyExpand
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