Lunt P - Search Results

1

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. Davidson AE, et al. Among authors: lunt p. Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. Brain. 2013. PMID: 23413262 Free PMC article.

2

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Pitceathly RD, et al. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29. Brain. 2012. PMID: 23107649 Free PMC article.

3

A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy.

Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW. Jardine PE, et al. Among authors: lunt pw. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):477-82. doi: 10.1016/0960-8966(94)90087-6. Neuromuscul Disord. 1994. PMID: 7881292

4

De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy.

Jardine P, Jones M, Tyfield L, Upadhyaya M, Lunt P. Jardine P, et al. Among authors: lunt p. Clin Genet. 1993 Sep;44(3):167. doi: 10.1111/j.1399-0004.1993.tb03872.x. Clin Genet. 1993. PMID: 8275579 No abstract available.

5

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG. Raja Rayan DL, et al. Among authors: lunt p. Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30. Neurology. 2012. PMID: 22649220 Free PMC article.

6

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Upadhyaya M, Maynard J, Osborn M, Jardine P, Harper PS, Lunt P. Upadhyaya M, et al. Among authors: lunt p. Muscle Nerve Suppl. 1995;2:S45-9. Muscle Nerve Suppl. 1995. PMID: 7739625

7

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Lunt PW, et al. Muscle Nerve Suppl. 1995;2:S103-9. Muscle Nerve Suppl. 1995. PMID: 7739619

8

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Upadhyaya M, Maynard J, Osborn M, Jardine P, Harper PS, Lunt P. Upadhyaya M, et al. Among authors: lunt p. Muscle Nerve Suppl. 1995;(2):S45-9. Muscle Nerve Suppl. 1995. PMID: 23573586

9

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD).

Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Lunt PW, et al. Hum Mol Genet. 1995 May;4(5):951-8. doi: 10.1093/hmg/4.5.951. Hum Mol Genet. 1995. PMID: 7633457

10

De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M. Jardine PE, et al. Among authors: lunt pw. Arch Dis Child. 1994 Sep;71(3):221-7. doi: 10.1136/adc.71.3.221. Arch Dis Child. 1994. PMID: 7979495 Free PMC article.

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