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Joseph J Higgins, MD, PhD - Publications

Affiliations: 
2006-2018 Neurology Weill Cornell Medical College, New York, NY, United States 
 2012-2018 Neurology  Quest Diagnostics 
 2018-2019 Clinical Development uniQure 
 2020- SalioGen Therapeutics 
Area:
Neurogenetics
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21 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2005 Higgins JJ, Lombardi RQ, Pucilowska J, Jankovic J, Tan EK, Rooney JP. A variant in the HS1-BP3 gene is associated with familial essential tremor Neurology. 64: 417-421. PMID 15699368 DOI: 10.1212/01.Wnl.0000153481.30222.38  0.344
2004 Higgins JJ, Lombardi RQ, Tan EK, Jankovic J, Pucilowska J, Rooney JP. Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor Clinical Genetics. 66: 353-357. PMID 15355439 DOI: 10.1111/J.1399-0004.2004.00306.X  0.303
2003 Gasser T, Bressman S, Dürr A, Higgins J, Klockgether T, Myers RH. State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 3-18. PMID 12518296 DOI: 10.1002/Mds.10338  0.325
2001 Higgins JJ, Loveless JM, Goswami S, Nee LE, Cozzo C, Biase AD, Rosen DR. An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia. Neurology. 56: 1482-1485. PMID 11402104 DOI: 10.1212/Wnl.56.11.1482  0.378
2000 Higgins JJ, Golbe LI, De Biase A, Jankovic J, Factor SA, Adler RL. An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy Neurology. 55: 1364-1367. PMID 11087782 DOI: 10.1212/Wnl.55.9.1364  0.333
2000 Higgins JJ, Rosen DR, Loveless JM, Clyman JC, Grau MJ. A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter. Neurology. 55: 335-340. PMID 10932263 DOI: 10.1212/Wnl.55.3.335  0.348
2000 Higgins JJ, Kluetzman K, Berciano J, Combarros O, Loveless JM. Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. Movement Disorders : Official Journal of the Movement Disorder Society. 15: 575-8. PMID 10830426 DOI: 10.1002/1531-8257(200005)15:3<575::Aid-Mds1023>3.0.Co;2-7  0.392
1999 Higgins JJ, Adler RL, Loveless JM. Mutational analysis of the tau gene in progressive supranuclear palsy. Neurology. 53: 1421-1421. PMID 10534245 DOI: 10.1212/Wnl.53.7.1421  0.342
1999 Higgins JJ, Litvan I, Nee LE, Loveless JM. A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration Neurology. 52: 404-406. PMID 9932968 DOI: 10.1212/Wnl.52.2.404  0.336
1999 Higgins JJ, Morton DH, Loveless JM. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurology. 52: 146-146. PMID 9921862 DOI: 10.1212/Wnl.52.1.146  0.38
1998 Higgins JJ, Loveless JM, Jankovic J, Patel PI. Evidence that a gene for essential tremor maps to chromosome 2p in four families. Movement Disorders. 13: 972-977. PMID 9827627 DOI: 10.1002/Mds.870130621  0.343
1998 Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. Pediatric Research. 43: 579-84. PMID 9585002 DOI: 10.1203/00006450-199805000-00004  0.332
1998 Higgins JJ, Litvan I, Pho LT, Li W, Nee LE. Progressive supranuclear gaze palsy is in linkage disequilibrium with the τ and not the α-synuclein gene Neurology. 50: 270-273. PMID 9443491 DOI: 10.1212/Wnl.50.1.270  0.346
1997 Higgins JJ, Morton DH, Patronas N, Nee LE. An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa Neurology. 49: 1717-1720. PMID 9409377 DOI: 10.1212/Wnl.49.6.1717  0.348
1997 Higgins JJ, Pho LT, Nee LE. A gene (ETM) for essential tremor maps to chromosome 2p22‐p25 Movement Disorders. 12: 859-864. PMID 9399207 DOI: 10.1002/Mds.870120605  0.322
1997 Higgins JJ, Pho LT, Ide SE, Nee LE, Polymeropoulos MH. Evidence for a new spinocerebellar ataxia locus. Movement Disorders : Official Journal of the Movement Disorder Society. 12: 412-7. PMID 9159738 DOI: 10.1002/Mds.870120322  0.355
1996 Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 46: 208-13. PMID 8559377 DOI: 10.1212/Wnl.46.1.208  0.365
1994 Higgins JJ, Kaneski CR, Bernardini I, Brady RO, Barton NW. Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome. Neurology. 44: 1728-32. PMID 7936305 DOI: 10.1212/Wnl.44.9.1728  0.565
1993 Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, Higgins JJ, O'Neill RR, Fedio P, Pikus A. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology. 43: 1993-7. PMID 8413956 DOI: 10.1212/Wnl.43.10.1993  0.331
1992 Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology. 42: 194-8. PMID 1734303 DOI: 10.1212/Wnl.42.1.194  0.591
1992 Higgins JJ, Patterson MC, Dambrosia JM, Pikus AT, Pentchev PG, Sato S, Brady RO, Barton NW. A clinical staging classification for type C Niemann-Pick disease. Neurology. 42: 2286-90. PMID 1461380 DOI: 10.1212/Wnl.42.12.2286  0.567
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