Author

Rebecca Ionasescu

Observed names: R IONASESCU, R Ionasescu, R. Ionasescu

Observed institutions: University of Iowa, University of Arizona, Hospital of the University of Pennsylvania, University of Iowa Hospitals and Clinics, John Radcliffe Hospital, University of Oxford, University of Iowa Stead Family Children’s Hospital, University of Pennsylvania, University of Colorado Denver

OpenAlex ID: A5113500663

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1994 · Victor Ionasescu, Charles Searby, et al. · Human Molecular Genetics · 122

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

1996 · V. V. Ionasescu, Ch. Searby, et al. · Neurology · 97

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy

1996 · Victor Ionasescu, Rebecca Ionasescu, et al. · American Journal of Medical Genetics · 94

Localization of the gene for X‐linked spinal muscular atrophy

1986 · Kenneth H. Fischbeck, Victor Ionasescu, et al. · Neurology · 84

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

1997 · Victor V. Ionasescu, Charles C. Searby, et al. · Muscle & Nerve · 74

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

1991 · V V Ionasescu, J Trofatter, et al. · Europe PMC (PubMed Central) · 70

Screening of dominantly inherited Charcot–Marie–Tooth neuropathies

1993 · Victor V. Ionasescu, Rebecca Ionasescu, et al. · Muscle & Nerve · 63

X‐linked recessive Charcot–Marie‐Tooth neuropathy: Clinical and genetic study

1992 · Victor V. Ionasescu, James Trofatter, et al. · Muscle & Nerve · 53

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

1995 · V. V. Ionasescu, R. Ionasescu, et al. · Neurology · 51

Recombination With Pert87 (dxs164) in Families With X-linked Muscular Dystrophy

1986 · K.H Fischbeck, A.W Ritter, et al. · The Lancet · 46

Inherited ophthalmoplegia with intestinal pseudo-obstruction

1983 · V. Ionasescu, S.H. Thompson, et al. · Journal of the Neurological Sciences · 39

Increased collagen synthesis by Duchenne myogenic clones

1982 · V. Ionasescu, R. Ionasescu · Journal of the Neurological Sciences · 33

New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

1995 · V. Ionasescu, Ch Searby, et al. · Neuromuscular Disorders · 32

X‐linked dominant charcot–marie–tooth neuropathy with 15 cases in a family genetic linkage study

1988 · Victor V. Ionasescu, Trudy L. Burns, et al. · Muscle & Nerve · 31

A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

1996 · Victor V. Ionasescu, Jun Kimura, et al. · Muscle & Nerve · 28

Mapping of the gene for X‐linked dominant Charcot‐Marie‐Tooth neuropathy

1992 · V. V. Ionasescu, J. Trofatter, et al. · Neurology · 28

Alterations in creatine kinase in fresh muscle and cell cultures in duchenne dystrophy

1981 · R. Ionasescu, L. Kaeding, et al. · Annals of Neurology · 25

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene

1997 · Victor V. Ionasescu, Charles C. Searby, et al. · Muscle & Nerve · 20

Alterations in lipid incorporation in Duchenne muscular dystrophy

1981 · V. Ionasescu, L. Monaco, et al. · Journal of the Neurological Sciences · 17

Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2).

1988 · V Ionasescu, R Anderson, et al. · Europe PMC (PubMed Central) · 14

Collagen synthesis by duchenne myogenic clones: Pathogenic implications for the disease

1982 · V. Ionasescu, R. Ionasescu, et al. · American Journal of Medical Genetics · 11

Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1

1995 · Margaret A. Pericak-Vance, David F. Barker, et al. · Human Heredity · 10

Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I)

1987 · Victor Ionasescu, Jeff C. Murray, et al. · Journal of the Neurological Sciences · 10

Charcot‐marie‐tooth neuropathy related to chromosome 1

1992 · Victor V. Ionasescu, James Trofatter, et al. · American Journal of Medical Genetics · 9

Prenatal diagnosis of Duchenne muscular dystrophy based on Xp21.2 deletion

1986 · Victor V. Ionasescu, Charles Searby, et al. · Neurology · 8

Works count: 40

Citation count: 1,091

H-index: 18

I10-index: 23