Longman C - Search Results

1

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Longman C, et al. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966029

2

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.

3

Skeletal muscle involvement in infantile systemic hyalinosis.

Zolkipli Z, Longman C, Brown S, Rahman N, Holder SE, Muntoni F. Zolkipli Z, et al. Among authors: longman c. Eur J Paediatr Neurol. 2003;7(6):401-6. doi: 10.1016/s1090-3798(03)00109-0. Eur J Paediatr Neurol. 2003. PMID: 14623219

4

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.

Dinçer P, Balci B, Yuva Y, Talim B, Brockington M, Dinçel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerçeker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H. Dinçer P, et al. Among authors: longman c. Neuromuscul Disord. 2003 Dec;13(10):771-8. doi: 10.1016/s0960-8966(03)00161-5. Neuromuscul Disord. 2003. PMID: 14678799

5

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F. Mercuri E, et al. Among authors: longman c. Neuromuscul Disord. 2004 Feb;14(2):125-9. doi: 10.1016/j.nmd.2003.09.005. Neuromuscul Disord. 2004. PMID: 14733958

6

Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.

Longman C, Sewry CA, Muntoni F. Longman C, et al. Pediatr Neurol. 2004 Feb;30(2):125-8. doi: 10.1016/S0887-8994(03)00415-6. Pediatr Neurol. 2004. PMID: 14984906

7

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Beltran-Valero de Bernabé D, et al. Among authors: longman c. J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870. J Med Genet. 2004. PMID: 15121789 Free PMC article. No abstract available.

8

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.

Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F. Longman C, et al. Arch Neurol. 2004 Aug;61(8):1301-6. doi: 10.1001/archneur.61.8.1301. Arch Neurol. 2004. PMID: 15313851

9

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

Mercuri E, Lampe A, Straub V, Yuva Y, Longman C, Wright M, Brown S, Sewry C, Bonnemann C, Kinali M, Brockington M, Hausser I, Hilton Jones D, Voit T, Bushby K, Muntoni F. Mercuri E, et al. Among authors: longman c. Neuropediatrics. 2004 Aug;35(4):224-9. doi: 10.1055/s-2004-821084. Neuropediatrics. 2004. PMID: 15328561

10

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.

Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F. Brockington M, et al. Among authors: longman c. Hum Mol Genet. 2005 Mar 1;14(5):657-65. doi: 10.1093/hmg/ddi062. Epub 2005 Jan 20. Hum Mol Genet. 2005. PMID: 15661757

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