Soffer D - Search Results

1

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z. Lossos A, et al. Among authors: soffer d. Brain. 2005 Jan;128(Pt 1):42-51. doi: 10.1093/brain/awh338. Epub 2004 Nov 17. Brain. 2005. PMID: 15548556

2

Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.

Lossos A, Reches A, Gal A, Newman JP, Soffer D, Gomori JM, Boher M, Ekstein D, Biran I, Meiner Z, Abramsky O, Rosenmann H. Lossos A, et al. Among authors: soffer d. J Neurol. 2003 Jun;250(6):733-40. doi: 10.1007/s00415-003-1074-4. J Neurol. 2003. PMID: 12796837

3

Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathy.

Lossos A, Soffer D, Steiner-Birmanns B, Hassin-Baer S, Sadeh M, Sagi M, Linetski E, Abramsky O, Argov Z, Rosenmann H. Lossos A, et al. Among authors: soffer d. Eur Neurol. 2005;53(2):55-9. doi: 10.1159/000084299. Epub 2005 Mar 7. Eur Neurol. 2005. PMID: 15753613

4

Early clinical heterogeneity in choreoacanthocytosis.

Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V. Lossos A, et al. Among authors: soffer d. Arch Neurol. 2005 Apr;62(4):611-4. doi: 10.1001/archneur.62.4.611. Arch Neurol. 2005. PMID: 15824261

5

Hereditary leukoencephalopathy and palmoplantar keratoderma: a new disorder with increased skin collagen content.

Lossos A, Cooperman H, Soffer D, Ben-Nariah Z, Sagi E, Gomori M, Abramsky O, Shoshan S, Argov Z. Lossos A, et al. Among authors: soffer d. Neurology. 1995 Feb;45(2):331-7. doi: 10.1212/wnl.45.2.331. Neurology. 1995. PMID: 7854535

6

Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?

Argov Z, Barash V, Soffer D, Sherman J, Raben N. Argov Z, et al. Among authors: soffer d. Neurology. 1994 Jun;44(6):1097-100. doi: 10.1212/wnl.44.6.1097. Neurology. 1994. PMID: 8208408

7

Inclusion body myositis: atypical clinical presentations.

Schlesinger I, Soffer D, Lossos A, Meiner Z, Argov Z. Schlesinger I, et al. Among authors: soffer d. Eur Neurol. 1996;36(2):89-93. doi: 10.1159/000117215. Eur Neurol. 1996. PMID: 8654492

8

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V. Lossos A, et al. Among authors: soffer d. Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. Ann Neurol. 1998. PMID: 9851430

9

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. Argov Z, et al. Among authors: soffer d. Brain. 2000 Jun;123 ( Pt 6):1229-37. doi: 10.1093/brain/123.6.1229. Brain. 2000. PMID: 10825360

10

Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.

Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S. Argov Z, et al. Among authors: soffer d. Neurology. 2003 May 13;60(9):1519-23. doi: 10.1212/01.wnl.0000061617.71839.42. Neurology. 2003. PMID: 12743242

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