Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

Autor: F Avni, Winnie Courtens, Bernard Dachy, N. Telerman-Toppet, H Scheffer, Anne Britt Johansson

Publikováno v: Journal of Medical Genetics, 39, 1, pp. 74-7
JOURNAL OF MEDICAL GENETICS, 39(1), 74-77. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 39, 74-7

We read with great interest the article published in this journal in 1991 by Borochowitz et al ,1 describing a new lethal syndrome consisting of infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in two sibs. Recently, ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b04fe7de368002c16cdb30b98f8fa77
https://doi.org/10.1136/jmg.39.1.74

Unusual occurrence of cervical myelopathy in a case of Stickler's syndrome

Autor: S Noël, D Balériaux, N. Telerman-Toppet

Publikováno v: Journal of medical genetics. 29(3)

We report the occurrence of progressive Brown-Sequard syndrome as the presenting clinical feature of cervical spondylosis in a young patient with Stickler's syndrome.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e4d3df5fc24ff4bb7310abd0fbe3e3
https://pubmed.ncbi.nlm.nih.gov/1552560

Movement disorders due to cerebral Toxoplasma gondii infection in patients with the acquired immunodeficiency syndrome (AIDS)

Autor: S, Noël, M P, Guillaume, N, Telerman-Toppet, E, Cogan

Publikováno v: Acta neurologica Belgica. 92(3)

Hemichorea and parkinsonism are unusual manifestations of cerebral toxoplasmosis in patients with AIDS. We here describe two such cases and we reviewed extensively the literature (through computer searches using MEDLINE) for other reported instances.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aa25705962431dd6408d2d8654d3e75c
https://pubmed.ncbi.nlm.nih.gov/1636372

Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage

Autor: N, Telerman-Toppet, G, Bauherz, S, Noël

Publikováno v: Clinical neuropathology. 10(2)

A young patient had an auriculo-ventricular block and a distal myopathy with muscle biopsy findings suggestive of inclusion body myositis. What was most unusual was the presence of numerous sarcoplasmic bodies identified as desmin by electron microsc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1a224af30d3a84729447a8cd471dba8c
https://pubmed.ncbi.nlm.nih.gov/1647283

Rhinocerebral mucormycosis in haemodialysis patients treated with desferrioxamine: possible role of recent surgery as an additional risk factor

Autor: N Douat, N Telerman-Toppet, Jacques Devriendt, Max Dratwa, P Bisschop, Robert Wens, Frederic Collart

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca0b3544bea733ea945e367d019d0061
https://pubmed.ncbi.nlm.nih.gov/1745390