Mendell JR - Search Results

1

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.

Elsheikh B, Prior T, Zhang X, Miller R, Kolb SJ, Moore D, Bradley W, Barohn R, Bryan W, Gelinas D, Iannaccone S, Leshner R, Mendell JR, Mendoza M, Russman B, Smith S, King W, Kissel JT. Elsheikh B, et al. Among authors: mendell jr. Muscle Nerve. 2009 Oct;40(4):652-6. doi: 10.1002/mus.21350. Muscle Nerve. 2009. PMID: 19760790

2

Spinal angiography and epidural venography in juvenile muscular atrophy of the distal arm "Hirayama disease".

Elsheikh B, Kissel JT, Christoforidis G, Wicklund M, Kehagias DT, Chiocca EA, Mendell JR. Elsheikh B, et al. Among authors: mendell jr. Muscle Nerve. 2009 Aug;40(2):206-12. doi: 10.1002/mus.21307. Muscle Nerve. 2009. PMID: 19609908

3

A placebo-controlled trial of gabapentin in spinal muscular atrophy.

Miller RG, Moore DH, Dronsky V, Bradley W, Barohn R, Bryan W, Prior TW, Gelinas DF, Iannaccone S, Kissel J, Leshner R, Mendell J, Mendoza M, Russman B, Samaha F, Smith S; SMA Study Group. Miller RG, et al. J Neurol Sci. 2001 Oct 15;191(1-2):127-31. doi: 10.1016/s0022-510x(01)00632-3. J Neurol Sci. 2001. PMID: 11677003 Clinical Trial.

4

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.

Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Mendell JR, et al. N Engl J Med. 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198. N Engl J Med. 2017. PMID: 29091557 Free article. Clinical Trial.

5

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley RT 3rd, Florence J, Burghes AH. DiDonato CJ, et al. Among authors: mendell jr. Ann Neurol. 1997 Feb;41(2):230-7. doi: 10.1002/ana.410410214. Ann Neurol. 1997. PMID: 9029072

6

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH. McAndrew PE, et al. Among authors: mendell jr. Am J Hum Genet. 1997 Jun;60(6):1411-22. doi: 10.1086/515465. Am J Hum Genet. 1997. PMID: 9199562 Free PMC article.

7

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. Parsons DW, et al. Among authors: mendell jr. Am J Hum Genet. 1998 Dec;63(6):1712-23. doi: 10.1086/302160. Am J Hum Genet. 1998. PMID: 9837824 Free PMC article.

8

Muscular dystrophy: historical overview and classification in the genetic era.

Kissel JT, Mendell JR. Kissel JT, et al. Among authors: mendell jr. Semin Neurol. 1999;19(1):5-7. doi: 10.1055/s-2008-1040821. Semin Neurol. 1999. PMID: 10711984 Review.

9

Case of the month: germline mosaicism in carriers of Duchenne muscular dystrophy.

Prior TW, Papp AC, Snyder PJ, Mendell JR. Prior TW, et al. Among authors: mendell jr. Muscle Nerve. 1992 Aug;15(8):960-3. doi: 10.1002/mus.880150815. Muscle Nerve. 1992. PMID: 1353862

10

Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy.

Al-Zaidy S, Pickard AS, Kotha K, Alfano LN, Lowes L, Paul G, Church K, Lehman K, Sproule DM, Dabbous O, Maru B, Berry K, Arnold WD, Kissel JT, Mendell JR, Shell R. Al-Zaidy S, et al. Among authors: mendell jr. Pediatr Pulmonol. 2019 Feb;54(2):179-185. doi: 10.1002/ppul.24203. Epub 2018 Dec 12. Pediatr Pulmonol. 2019. PMID: 30548438 Free PMC article. Clinical Trial.

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