Goldfarb LG - Search Results

1

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C. Arias M, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2006 Aug;16(8):498-503. doi: 10.1016/j.nmd.2006.05.011. Epub 2006 Jun 27. Neuromuscul Disord. 2006. PMID: 16806931

2

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.

Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG. Piñol-Ripoll G, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2009 Jun;19(6):418-22. doi: 10.1016/j.nmd.2009.04.004. Epub 2009 May 9. Neuromuscul Disord. 2009. PMID: 19433360 Free PMC article.

3

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.

Olivé M, Odgerel Z, Martínez A, Poza JJ, Bragado FG, Zabalza RJ, Jericó I, Gonzalez-Mera L, Shatunov A, Lee HS, Armstrong J, Maraví E, Arroyo MR, Pascual-Calvet J, Navarro C, Paradas C, Huerta M, Marquez F, Rivas EG, Pou A, Ferrer I, Goldfarb LG. Olivé M, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2011 Aug;21(8):533-42. doi: 10.1016/j.nmd.2011.05.002. Epub 2011 Jun 14. Neuromuscul Disord. 2011. PMID: 21676617 Free PMC article.

4

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

Olivé M, Armstrong J, Miralles F, Pou A, Fardeau M, Gonzalez L, Martínez F, Fischer D, Martínez Matos JA, Shatunov A, Goldfarb L, Ferrer I. Olivé M, et al. Neuromuscul Disord. 2007 Jun;17(6):443-50. doi: 10.1016/j.nmd.2007.02.009. Epub 2007 Apr 5. Neuromuscul Disord. 2007. PMID: 17418574 Free PMC article.

5

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG. Dalakas MC, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2003 Mar;13(3):252-8. doi: 10.1016/s0960-8966(02)00271-7. Neuromuscul Disord. 2003. PMID: 12609507

6

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.

Odgerel Z, Sarkozy A, Lee HS, McKenna C, Rankin J, Straub V, Lochmüller H, Paola F, D'Amico A, Bertini E, Bushby K, Goldfarb LG. Odgerel Z, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2010 Jul;20(7):438-42. doi: 10.1016/j.nmd.2010.05.004. Epub 2010 Jun 3. Neuromuscul Disord. 2010. PMID: 20605452 Free PMC article.

7

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, Martinez-Matos JA, Goldfarb LG, Ferrer I. Olivé M, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2008 Dec;18(12):929-33. doi: 10.1016/j.nmd.2008.07.009. Epub 2008 Oct 22. Neuromuscul Disord. 2008. PMID: 18948002 Free PMC article.

8

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E. D'Amico A, et al. Neuromuscul Disord. 2005 Dec;15(12):847-50. doi: 10.1016/j.nmd.2005.09.007. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288872

9

Different early pathogenesis in myotilinopathy compared to primary desminopathy.

Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schröder R. Fischer D, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2006 Jun;16(6):361-7. doi: 10.1016/j.nmd.2006.03.007. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684602

10

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Pfeffer G, Sambuughin N, Olivé M, Tyndel F, Toro C, Goldfarb LG, Chinnery PF. Pfeffer G, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2014 Mar;24(3):241-4. doi: 10.1016/j.nmd.2013.12.001. Epub 2013 Dec 11. Neuromuscul Disord. 2014. PMID: 24444549 Free PMC article.

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