Kaczmarski W - Search Results

1

Neuronal ceroid lipofuscinoses: classification and diagnosis.

Wisniewski KE, Kida E, Golabek AA, Kaczmarski W, Connell F, Zhong N. Wisniewski KE, et al. Among authors: kaczmarski w. Adv Genet. 2001;45:1-34. doi: 10.1016/s0065-2660(01)45002-4. Adv Genet. 2001. PMID: 11332767 Review.

2

Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses.

Wisniewski KE, Kaczmarski W, Golabek AA, Kida E. Wisniewski KE, et al. Among authors: kaczmarski w. Am J Med Genet. 1995 Jun 5;57(2):246-9. doi: 10.1002/ajmg.1320570227. Am J Med Genet. 1995. PMID: 7668339

3

Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.

Wiśniewski KE, Zhong N, Kida E, Kaczmarski W, Kaczmarski A, Connell F, Brooks SS, Brown WT. Wiśniewski KE, et al. Among authors: kaczmarski w, kaczmarski a. Folia Neuropathol. 1997;35(2):73-9. Folia Neuropathol. 1997. PMID: 9377079 Review.

4

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.

Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwarz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM. Wisniewski KE, et al. Among authors: kaczmarski w, kaczmarski a. Ann Neurol. 1998 Jan;43(1):106-10. doi: 10.1002/ana.410430118. Ann Neurol. 1998. PMID: 9450775

5

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT. Zhong N, et al. Among authors: kaczmarski w, kaczmarski al. Hum Genet. 1998 Jan;102(1):57-62. doi: 10.1007/s004390050654. Hum Genet. 1998. PMID: 9490299

6

Studies of atypical JNCL suggest overlapping with other NCL forms.

Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Sklower-Brooks S, Brown WT. Wisniewski KE, et al. Among authors: kaczmarski w, kaczmarski a. Pediatr Neurol. 1998 Jan;18(1):36-40. doi: 10.1016/s0887-8994(97)00188-4. Pediatr Neurol. 1998. PMID: 9492089 Clinical Trial.

7

Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.

Wisniewski KE, Connell F, Kaczmarski W, Kaczmarski A, Siakotos A, Becerra CR, Hofmann SL. Wisniewski KE, et al. Among authors: kaczmarski w, kaczmarski a. Pediatr Neurol. 1998 Feb;18(2):119-23. doi: 10.1016/s0887-8994(97)00173-2. Pediatr Neurol. 1998. PMID: 9535296

8

Evidence for phosphorylation of CLN3 protein associated with Batten disease.

Michalewski MP, Kaczmarski W, Golabek AA, Kida E, Kaczmarski A, Wisniewski KE. Michalewski MP, et al. Among authors: kaczmarski w, kaczmarski a. Biochem Biophys Res Commun. 1998 Dec 18;253(2):458-62. doi: 10.1006/bbrc.1998.9210. Biochem Biophys Res Commun. 1998. PMID: 9878558

9

Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

Wisniewski KE, Kaczmarski A, Kida E, Connell F, Kaczmarski W, Michalewski MP, Moroziewicz DN, Zhong N. Wisniewski KE, et al. Among authors: kaczmarski w, kaczmarski a. Mol Genet Metab. 1999 Apr;66(4):248-52. doi: 10.1006/mgme.1999.2814. Mol Genet Metab. 1999. PMID: 10191110

10

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells.

Golabek AA, Kida E, Walus M, Kaczmarski W, Michalewski M, Wisniewski KE. Golabek AA, et al. Among authors: kaczmarski w. Mol Genet Metab. 2000 Jul;70(3):203-13. doi: 10.1006/mgme.2000.3006. Mol Genet Metab. 2000. PMID: 10924275

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