Authors:
Karabanov, AV
Ovchinnikov, IV
Illarioshkin, SN
Poleschuk, VV
Slominsky, PA
Markova, ED
Rebrova, OY
Limborskaya, SA
Ivanova-Smolenskaya, IA
Citation: Av. Karabanov et al., Analysis of mutations in ATP7B gene and experience of the direct DNA-diagnosis in hepatolenticular degeneration, ZH NEVR PS, 101(4), 2001, pp. 44-47
Authors:
Periquet, M
Lucking, CB
Vaughan, JR
Bonifati, V
Durr, A
De Michele, G
Horstink, MW
Farrer, M
Illarioshkin, SN
Pollak, P
Borg, M
Brefel-Courbon, C
Denefle, P
Meco, G
Gasser, T
Breteler, MMB
Wood, NW
Agid, Y
Brice, A
Citation: M. Periquet et al., Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects, AM J HU GEN, 68(3), 2001, pp. 617-626
Authors:
Illarioshkin, SN
Bagieva, GK
Klyushnikov, SA
Ovchinnikov, IV
Markova, ED
Ivanova-Smolenskaya, IA
Citation: Sn. Illarioshkin et al., Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features, EUR J NEUR, 7(5), 2000, pp. 535-540
Authors:
Illarioshkin, SN
Ivanova-Smolenskaya, IA
Rahmonov, RA
Markova, ED
Stevanin, G
Brice, A
Citation: Sn. Illarioshkin et al., Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan, MOVEMENT D, 15(5), 2000, pp. 1020-1023
Authors:
Illarioshkin, SN
Ivanova-Smolenskaya, IA
Markova, ED
Zagorovskaya, TB
Brice, A
Citation: Sn. Illarioshkin et al., Lack of alpha-synuclein gene mutations in families with autosomal dominantParkinson's disease in Russia, J NEUROL, 247(12), 2000, pp. 968-969
Authors:
Markova, ED
Slominsky, PA
Illarioshkin, SN
Miklina, NI
Popova, SN
Limborska, SA
Ivanova-Smolenskaya, IA
Citation: Ed. Markova et al., A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia, EUR J NEUR, 6(5), 1999, pp. 605-608
Authors:
Illarioshkin, SN
Druzina, EB
Bagieva, GK
Markova, ED
Miklina, NI
Ovchinnikov, IV
Ivanova-Smolenskaya, IA
Citation: Sn. Illarioshkin et al., Friedreich's disease: a real spectrum of clinical manifestations in terms of direct DNA-diagnosis, ZH NEVR PS, 99(8), 1999, pp. 31-34