G M Saifi
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Explore the profile of G M Saifi including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
135
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Recent Articles
1.
Kabzinska D, Saifi G, Drac H, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I, Kochanski A, et al.
Acta Myol
. 2008 Apr;
26(2):108-11.
PMID: 18421898
Charcot-Marie-Tooth type 4C4 disease (CMT4C4) is an early onset, autosomal recessive neuropathy with hoarseness caused by mutations in the GDAP1 gene which maps to the 8q13 region. To date, only...
2.
Claramunt R, Pedrola L, Sevilla T, Lopez de Munain A, Berciano J, Cuesta A, et al.
J Med Genet
. 2005 Apr;
42(4):358-65.
PMID: 15805163
No abstract available.
3.
Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, et al.
Neurology
. 2005 Jan;
64(1):142-4.
PMID: 15642921
The authors describe three siblings born to consanguineous parents with early onset ataxia, dysarthria, myoclonic, generalized tonic clonic seizures, upward gaze palsy, extensor plantar reflexes, sensory neuropathy, and normal cognition....
4.
Szigeti K, Sule N, Adesina A, Armstrong D, Saifi G, Bonilla E, et al.
Ann Neurol
. 2004 Nov;
56(6):881-6.
PMID: 15562405
Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystemic disorder caused by thymidine phosphorylase deficiency. Whereas the pathomechanism of the secondary mitochondrial dysfunction has been extensively studied, that of the leukoencephalopathy...
5.
Szigeti K, Wong L, Perng C, Saifi G, Eldin K, Adesina A, et al.
J Med Genet
. 2004 Feb;
41(2):125-9.
PMID: 14757860
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by thymidine phosphorylase (TP) deficiency, resulting in severe gastrointestinal dysmotility and skeletal muscle abnormalities. A patient is reported with...
6.
Saifi G, Chandra H
Proc Biol Sci
. 1999 Mar;
266(1415):203-9.
PMID: 10097393
We describe here the results of a search of Mendelian inheritance in man, GENDIAG and other sources which suggest that, in comparison with autosomes 1, 2, 3, 4 and 11,...