Kakulas BA - Search Results

1

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.

Wilton SD, Chandler DC, Kakulas BA, Laing NG. Wilton SD, et al. Among authors: kakulas ba. Hum Mutat. 1994;3(2):133-40. doi: 10.1002/humu.1380030208. Hum Mutat. 1994. PMID: 8199594

2

Autosomal dominant distal myopathy: linkage to chromosome 14.

Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, Kozman H, Mastaglia FL, Kakulas BA. Laing NG, et al. Among authors: kakulas ba. Am J Hum Genet. 1995 Feb;56(2):422-7. Am J Hum Genet. 1995. PMID: 7847377 Free PMC article.

3

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG. Nowak KJ, et al. Among authors: kakulas ba. Neuromuscul Disord. 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2. Neuromuscul Disord. 2000. PMID: 10714584

4

Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

Laing NG, Layton MG, Johnsen RD, Chandler DC, Mears ME, Goldblatt J, Kakulas BA. Laing NG, et al. Among authors: kakulas ba. Am J Med Genet. 1992 Mar 1;42(5):688-92. doi: 10.1002/ajmg.1320420512. Am J Med Genet. 1992. PMID: 1632439

5

Duchenne muscular dystrophy (DMD) gene cDNA 8 PstI and TaqI polymorphisms involve exon 51 of the HindIII map.

Laing NG, Akkari PA, Chandler DC, Thomas HE, Layton MG, Mears ME, Kakulas BA. Laing NG, et al. Among authors: kakulas ba. Nucleic Acids Res. 1990 Jul 25;18(14):4284. doi: 10.1093/nar/18.14.4284. Nucleic Acids Res. 1990. PMID: 1974044 Free PMC article. No abstract available.

6

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.

Mastaglia FL, Harker N, Phillips BA, Day TJ, Hankey GJ, Laing NG, Fabian V, Kakulas BA. Mastaglia FL, et al. Among authors: kakulas ba. J Neurol Neurosurg Psychiatry. 1998 Apr;64(4):543-7. doi: 10.1136/jnnp.64.4.543. J Neurol Neurosurg Psychiatry. 1998. PMID: 9576553 Free PMC article.

7

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG. Mastaglia FL, et al. Among authors: kakulas ba. J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9. doi: 10.1136/jnnp.67.2.174. J Neurol Neurosurg Psychiatry. 1999. PMID: 10406984 Free PMC article.

8

A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.

Walker AP, Laing NG, Yamada T, Chandler DC, Kakulas BA, Bartlett RJ. Walker AP, et al. Among authors: kakulas ba. J Med Genet. 1992 Jan;29(1):14-9. doi: 10.1136/jmg.29.1.14. J Med Genet. 1992. PMID: 1552537 Free PMC article.

9

The diagnosis of Duchenne and Becker muscular dystrophies: two years' experience in a comprehensive carrier screening and prenatal diagnostic laboratory.

Laing NG, Mears ME, Chandler DC, Layton MG, Thomas HE, Johnsen RD, Goldblatt J, Kakulas BA. Laing NG, et al. Among authors: kakulas ba. Med J Aust. 1991 Jan 7;154(1):14-8. doi: 10.5694/j.1326-5377.1991.tb112839.x. Med J Aust. 1991. PMID: 1670611

10

Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe.

Laing NG, Mears ME, Thomas HE, Chandler DC, Layton MG, Goldblatt J, Kakulas BA. Laing NG, et al. Among authors: kakulas ba. Med J Aust. 1990 Mar 5;152(5):270-1. doi: 10.5694/j.1326-5377.1990.tb120926.x. Med J Aust. 1990. PMID: 2255288

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