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Items: 10

1.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS.

Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.

2.

Improving Reports Turnaround Time: An Essential Healthcare Quality Dimension.

Khan M, Khalid P, Al-Said Y, Cupler E, Almorsy L, Khalifa M.

Stud Health Technol Inform. 2016;226:205-8.

PMID:
27350505
3.

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33.

Bohlega S, Alazami AM, Cupler E, Al-Hindi H, Ibrahim E, Alkuraya FS.

Clin Genet. 2011 Feb;79(2):193-5. doi: 10.1111/j.1399-0004.2010.01524.x. No abstract available.

PMID:
21210780
4.

Correspondence regarding: TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy. J Neuropathol Exp Neurol 2010:69;918-29.

Bedlack RS, Genge A, Amato AA, Shaibani A, Jackson CE, Kissel JT, Wall C, King WM, Cupler E, Lou JS, Ensrud E, Tan E, Goldstein JM, Katz J, Dimachkie MM, Barohn RJ, Mozaffar T.

J Neuropathol Exp Neurol. 2011 Jan;70(1):96-7; author reply 98-100. doi: 10.1097/NEN.0b013e318204782b. No abstract available.

PMID:
21173608
5.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J.

Mol Genet Metab. 2008 Mar;93(3):275-81. Epub 2007 Dec 19.

PMID:
18078773
6.

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.

Hodgkinson CA, Bohlega S, Abu-Amero SN, Cupler E, Kambouris M, Meyer BF, Bharucha VA.

Neurology. 2002 Dec 24;59(12):1905-9.

PMID:
12499481
7.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr.

Neurology. 2001 Jul 24;57(2):271-8.

PMID:
11468312
8.

A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBM.

Dalakas MC, Koffman B, Fujii M, Spector S, Sivakumar K, Cupler E.

Neurology. 2001 Feb 13;56(3):323-7.

PMID:
11171896
9.

Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study.

Dalakas MC, Sonies B, Dambrosia J, Sekul E, Cupler E, Sivakumar K.

Neurology. 1997 Mar;48(3):712-6.

PMID:
9065553
10.

A controlled study of intravenous immunoglobulin in demyelinating neuropathy with IgM gammopathy.

Dalakas MC, Quarles RH, Farrer RG, Dambrosia J, Soueidan S, Stein DP, Cupler E, Sekul EA, Otero C.

Ann Neurol. 1996 Nov;40(5):792-5.

PMID:
8957021

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