Zobrazeno 1 - 10
of 279
pro vyhledávání: '"V. Ionasescu"'
Publikováno v:
Developmental Medicine & Child Neurology. 30:328-333
Ten male patients with Duchenne muscular dystrophy (DMD) and 10 age-matched controls were tested with the WISC-R and a memory test requiring recall of the serial positions of drawings of easily named objects. After statistically controlling for diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e52b34f01eeab2f3a4ea24aecb2ee15
https://doi.org/10.1111/j.1469-8749.1988.tb14557.x
https://doi.org/10.1111/j.1469-8749.1988.tb14557.x
Publikováno v:
Neurology. 47:541-544
We studied two families with X-linked dominant Charcot-Marie-Tooth neuropathy. The clinical findings included onset around age 14 years, with moderate weakness of feet extensors and palmar and dorsal interossei, areflexia, distal hypesthesia, and slo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded4e8f44ad2ac571d722e4426d2558e
https://doi.org/10.1212/wnl.47.2.541
https://doi.org/10.1212/wnl.47.2.541
Publikováno v:
American Journal of Medical Genetics. 63:486-491
We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3734d2da8249703013ab0761088f6ce
https://doi.org/10.1002/(sici)1096-8628(19960614)63:3<486::aid-ajmg14>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960614)63:3<486::aid-ajmg14>3.0.co
Publikováno v:
Muscle & Nerve. 19:319-323
The patient is a 55-year-old black male who belongs to a large family with 9 affected relatives with autosomal dominant Dejerine-Sottas neuropathy (DSN). Onset of his condition was at 2 years of age with steppage gait followed by severe progressive w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc6b56f7b08f382ef424499a602fdff0
https://doi.org/10.1002/(sici)1097-4598(199603)19:3<319::aid-mus6>3.0.co
https://doi.org/10.1002/(sici)1097-4598(199603)19:3<319::aid-mus6>3.0.co
Publikováno v:
Muscle & Nerve. 16:1232-1238
Sixty-three families with dominantly inherited Charcot-Marie-Tooth (CMT) neuropathies including 730 subjects (total) from which 356 affected were studied clinically, electrophysiologically (MNCVs and EMGs), by genetic linkage, and screened for DNA du
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e9de1de1d84c939a6e579b0cf803ea
https://doi.org/10.1002/mus.880161114
https://doi.org/10.1002/mus.880161114
Autor:
Victor V. Ionasescu, Charles Searby, Claudia L. Arberas, Rebecca Ionasescu, Ricardo Reisin, Víctor Ruggieri
Publikováno v:
Muscle & Nerve. 20:1308-1310
A 27-year-old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cce300f2c1a300fa5ca43d0b35d7809c
https://doi.org/10.1002/(sici)1097-4598(199710)20:10<1308::aid-mus14>3.0.co
https://doi.org/10.1002/(sici)1097-4598(199710)20:10<1308::aid-mus14>3.0.co
Autor:
Victor V. Ionasescu
Publikováno v:
Cell biology international. 22(11-12)
We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa51eb4eac7c36158d30eead7735e339
https://pubmed.ncbi.nlm.nih.gov/10873293
https://pubmed.ncbi.nlm.nih.gov/10873293
Publikováno v:
Musclenerve. 20(10)
A 27-year-old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::012042b7bfe01b76c4ba1dc21aef9f9d
https://pubmed.ncbi.nlm.nih.gov/9324088
https://pubmed.ncbi.nlm.nih.gov/9324088
Autor:
Rebecca Ionasescu, Nitin Patel, Sansnee Chatkupt, Charles Searby, Richard Koenigsberger, Victor V. Ionasescu
Publikováno v:
Musclenerve. 20(1)
We studied a 25-year-old black woman with healthy parents and her 2-year, 11-month-old son. Her motor development was delayed and she started to walk with support when she was 6 years old. She never walked independently and had always used a wheelcha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d056e08f967b2bde49359715eb1efa9d
https://pubmed.ncbi.nlm.nih.gov/8995589
https://pubmed.ncbi.nlm.nih.gov/8995589
Publikováno v:
Bioscience reports. 16(3)
The connexin32 (cx32) gene codes for the gap junction protein found in liver, pancreas and nervous tissue. Recently mutations in the coding region of this gene have been associated with the dominant X-linked form of Charcot-Marie-Tooth (CMTX1) neurop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc1ad435f7fb901dfb891a1bb7e014a2
https://pubmed.ncbi.nlm.nih.gov/8842374
https://pubmed.ncbi.nlm.nih.gov/8842374