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A large GLC1C greek family with a myocilin T377M mutation : Inheritance and phenotypic variabilityPETERSEN, Michael B; KITSOS, George; PSILAS, Konstantinos et al.Investigative ophthalmology & visual science. 2006, Vol 47, Num 2, pp 620-625, issn 0146-0404, 6 p.Article

The DYT1 mutation and nonfamilial primary torsion dystonia. Authors' replyBRESSMAN, Susan B; FAHN, Stanley; OZELIUS, Laurie J et al.Archives of neurology (Chicago). 2001, Vol 58, Num 4, pp 681-682, issn 0003-9942Article

Functional Screening of Alzheimer Pathology Genome-wide Association Signals in DrosophilaSHULMAN, Joshua M; CHIPENDO, Portia; DE JAGER, Philip L et al.American journal of human genetics. 2011, Vol 88, Num 2, pp 232-238, issn 0002-9297, 7 p.Article

The role of the WDR36 gene on chromosome 5q22.1 in a large family with primary open-angle glaucoma mapped to this regionKRAMER, Patricia L; SAMPLES, John R; MONEMI, Sharareh et al.Archives of ophthalmology (1960). 2006, Vol 124, Num 9, pp 1328-1331, issn 0003-9950, 4 p.Article

ε-Sarcoglycan mutations found in combination with other dystonia gene mutationsKLEIN, Christine; LIU LIU; SMITH, Christopher et al.Annals of neurology. 2002, Vol 52, Num 5, pp 675-679, issn 0364-5134, 5 p.Article

Variants in ASB10 are associated with open-angle glaucomaPASUTTO, Francesca; KELLER, Kate E; EDMUNDS, Beth et al.Human molecular genetics (Print). 2012, Vol 21, Num 6, pp 1336-1349, issn 0964-6906, 14 p.Article

Childhood-onset Restless Legs Syndrome : Clinical and Genetic Features of 22 FamiliesMUHLE, Hiltrud; NEUMANN, Anja; STEPHANI, Ulrich et al.Movement disorders. 2008, Vol 23, Num 8, pp 1113-1121, issn 0885-3185, 9 p.Article

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriersPRAMSTALLER, Peter P; SCHLOSSMACHER, Michael G; KRAMER, Patricia L et al.Annals of neurology. 2005, Vol 58, Num 3, pp 411-422, issn 0364-5134, 12 p.Article

A major locus for myoclonus-dystonia maps to chromosome 7q in eight familiesKLEIN, Christine; SCHILLING, Karla; FORSGREN, Lars et al.American journal of human genetics. 2000, Vol 67, Num 5, pp 1314-1319, issn 0002-9297Article