Key Group Publications


2017

Shahrizaila N, Noto Y, Simon NG, Huynh W, Shibuya K, Matamala JM, Dharmadasa T, Devenney E, Kennerson ML, Nicholson GA, Kiernan MC. Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy. Clin Neurophysiol. 2017 Jan;128(1):227-232 [PMID:27940147]


2016

Drew AP, Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML. A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. Hum Genet. 2016 Aug 3. [PMID: 27487800]

Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genetics 2016 Jul 20;12(7):e1006177 [PMID:27438001]

Perez-Siles G, Ly C, Grant A, Drew AP, Yiu EM, Ryan MM, Chuang DT, Tso SC, Nicholson GA, Kennerson ML. Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation. Neurobiology disease 2016 Jul 5;94:237-244 [PMID:27388934]

Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine S, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML. Characterizing the molecular phenotype of an Atp7aT985I conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Metallomics 2016 Jun 13 [PMID:27293072]

Kennerson ML, Kim EJ, Siddell A, Kidambi A, Kim SM, Hong YB, Hwang SH, Chung KW, Choi BO. X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. Journal of Peripheral Nervous System 2016 Mar;21(1):45-51. [PMID:26801680]

Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Annals of Neurology 2016 Mar; 79(3):419-427. [PMID: 26659848]

Tey S, Ahmad-Annuar A, Drew AP, Shahrizaila N, Nicholson GA, Kennerson ML. Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies. Clinical Genetics 2016 Aug;90(2):127-133. [PMID: 26659848]


2015

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain: a journal of neurology. 2015;138:2191-2205.

Drew AP, Zhu D, Kidambi A, Ly C, Tey S, Brewer MH, Ahmad-Annuar A, Nicholson GA, Kennerson ML. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Molecular genetics & genomic medicine. 2015;3:143-154.

Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, MacMillan J, Jordanova A. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. Human mutation. 2015;36:287-291.

Strickland AV, Schabhuttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Zuchner S, Schule R, Shy ME, Auer-Grumbach M. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of neurology. 2015;262:2124-2134.


2015

Tey S, Ahmad-Annuar A, Drew AP, Shahrizaila N, Nicholson GA, Kennerson ML (2014) Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies. Neurogenetics. 2014 Jul 16. [Epub ahead of print] [PMID:25028179]

Liang C, Howells J, Kennerson M, Nicholson GA, Burke D, Ng K. (2014) Axonal excitability in X-linked dominant Charcot Marie Tooth disease. Clin Neurophysiol. Jun;125(6):1261-9.[PMID: 24290847]


2013

Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve Jun;47(6): 922-4. [PMID:23553728]

Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Züchner S, Ryan MM, Nicholson GA. (2013) A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum Mol Gen April 22(7): 1404-1416.[PMID:23297365]

Vucic S, Nicholson GA, Chio A, Kiernan MC. (2013) Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener Feb 15[PMID: 23365052]


2012

Chaudhry R, Kidambi A, Brewer MH, Antonellis A, Mathews K, Nicholson G, Kennerson M. (2012) Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve No 29 [PMID: 23553728]

Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnermann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. (2012) Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet Dec 7; 91(6) 1095-1102. [PMID: 23217327]

Williams KL, Warraich ST, Yang S, Solski JA, Fernando R, Rouleau GA, Nicholson GA, Blair IP. (2012) UBQLN2/ubiquilin 2 mutation and pathology in familial amytrophic lateral sclerosis. Neurobiol Aging Oct; 33(10) 2527.e3-10. [PMID: 22717235]

Reetz K, Dogan I, Rolfs A, Binkofski F, Schulz JB, Laird AR, Fox PT, Eickoff SB (2012) Investigating function and connectivity of morphometric findings-exemplified on cerebellar atrophy in spinocerebellar ataxia 14 (SCA17). Neuroimage Sep; 62(3):1354-1366 [PMID: 22659444]

Shahrizaila N, Goh KJ, Ahmad-Annuar A, Chaudhry R, Ly C, Ryan MM, Nicholson G, Kennerson M. (2012) A family with 2 X-linked disorders: Charcot-Marie-Tooth and hemophelia A.Muscle Nerve Sep 46(3) 454-455. [PMID: 22907240] Solski JA, Yang S, Nicholson GA, Luguin N, Williams KL, Fernando R, Pamphlett R, Blair IP. (2012) A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Sep; 13(5) 465-470. [PMID: 22424122]

Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess , Tsuji S, Coutinho P, Amorim A, Sequieros J, Nicholson GA, (2012) Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala. Arch Neurol Jun; 69(6) 746-751. [PMID: 22351852]

Williams KL, Solski JA, Nicholson GA, Blair IP. (2012) Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging Jul; 33(7):1488.15-16. [PMID: 22196955]

Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S. (2012) The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Am J Hum Genet Aug 10; 91(2) 320-329. [PMID: 22883144]

Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KA, Clay-Falcone D, Elman L, McCluskey L, Reene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD. (2012) Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum Mol Genet Jul 1; 21(13) 2899-2911. [PMID: 22454397]

Nicholson GA. (2012) Hereditary Sensory Neuropathy Type IA. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors GeneReviews May [PMID: 20301564]

Yi L, Donsante A, Kennerson ML, Mercer JF, Garben JY, Kaler SG. (2012) Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. Hum Mol Genet Apr 15; 21(8) 1794-1807. [PMID: 22210628]

Susman RD, Quijano-Roy S, Yang N, Webster R, Clarker NFM Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, Garcia-Bragado F, Guicheney P, Bioun M, Carlier RY, North KN. (2012) Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord Apr; 20(4) 229-237. [PMID: 20227276]

Le Couteur DG, Benson VL, McMahon AC, Blyth F, Handelsman DJ, Seibel MJ, Kennerson ML, Naganathan V, Cumming RG, De Cabo R. (2012) Determinants of serum-induced SIRT1 expression in older men: the CHAMP study. J Gerontol A Biol Sci Med Sci Jan; 66(1) 3-8. [PMID: 20819794]

McLaughlin HM, Sakaguchi R, Giblin W, NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. (2012) A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat. Jan; 33(1):244-253 [PMID: 22009580]


2011

Drew AP, Blair IP, Nicholson GA. (2011) Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies. Curr Mol MedNov; 11(8) 650-665. [PMID: 2190652]

Coulthouis J, Hart MP, Shorter J, Dejesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Solski JA, Williams KL, Mojsilovic-Ptrovic J, Ingre C, Boylan K, Graff-Radfor NR, Dickson DW, Clay-Falcone D, Elman L, McCluskey L, Greene R, Kalb RG, Lee VM, Trojanowski JQ, Ludolph A, Robberecht W, Andersen PM, Nicholson GA, Blair IP, King OD, Bonini NM, Van Deerlin V, Rademakers R, Mourelatos Z, Gitler AD (2011) A yeast functional screen predicts new candidate ALS disease genes. Curr Mol Med Nov; 11(8) 650-665. [PMID: 22065782]

Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Mason AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA (2011) KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet Aug12;89(2) 219-230. [PMID: 21820098]

Klein CJ, Botuyan MV, Wu Y,Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boe B, Atkinson EJ, Middha S, Parisi JE, Mer G, Smith DI, Dyck PJ (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet Jun;43(6) 595-600. [PMID: 21532572]

Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA. (2011) A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology Feb 1;76(5) 461-465. [PMID: 21282593]

Solski JA, Williams KL, Yang S, Nicholson GA, Blair IP. (2011) Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis. Neurobiol Aging Jan;33(1) 210.e9-10. [PMID: 22015311]

2010

Warraich ST, Yang S, Nicholson GA, Blair IP. (2010) TDP-43: a DNA/RNA binding protein with roles in neurodegenerative diseases. Int J biochem Cell Biol Oct;42(10) 1606-1609. [PMID: 20601083]

Baumann F, Rose SE, Nicholson GA, Hutchinson N, Pannek K, Pettitt A, Mccombe PA, Henderson RD. (2010) Biomarkers of disease in a case of familial lower motor neuron ALS.Amyotroph Lateral Scler Oct;11(5) 486-489. [PMID: 20429685]

Yang S, Warraich ST, Nicholson GA, Blair IP. (2010) Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein. Int J biochem Cell Biol Sep;42(9) 1408-1411. [PMID: 20541619]

del Porto LA, Nicholson GA, Ketheswaren P. (2010) Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies. J Clin Neurosci Jul;17(7) 874-878. [PMID: 200399669]

Brewer MH, Chaudhry R, McDowall K, Chu S, Kowalski B, Polly P, Nicholson GA, Kennerson M. (2010) X-linked CMT: genes and gene loci in an Australian cohort.Neurogenetics May;11(2)267-269. [PMID: 20204443]

Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fische D, Timmerman V, Taylor PE, Scherer SS, Ferguson TAM, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. (2010) Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet Mar 12;86(3) 343-352. [PMID: 20170900]

Vucic S, Nicholson GA, Kiernan MC (2010) Cortical excitability in hereditary motor neuropathy with pyramidal signs: comparison with ALS. J Neurol Neurosurg Psychiatry Jan;81(1)97-100 [PMID: 20301564]


2009

Baumer D, Lee S, Nicholson G, Davies JL, Parkinson NJ, Murray LM, Gillingwater TH, Ansorge O, Davies KE, Talbot K. (2009) Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy PLoS Genet Dec 5(12):e1000773. [PMID: 20019802]

Williams, KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP.(2009) A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred J Neurol Neurosurg Psychiatry Nov;80(11):1286-1288. [PMID: 19864664]

Claeys KG, Züchner S, Kennerson ML, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P. (2009) Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain Jul 132(Pt7): 1741-1752. [PMID: 19502294]

Ganesamoorthy D, Bruno DL, Schoumans J, Storey E, Delatycki MB, Zhu D, Wei MK, Nicholson GA, McKinlay Gardner RJ, Slater HR. (2009) Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin Chem Jul 55(7):1415-1418. [PMID: 19423733]

Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, Blumbergs PC, Vucic S, Kiernan MC, Nicholson GA.(2009) FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis J Neurol Neurosurg Psychiatry Jun 81(6):639-645. [PMID: 19965854]

Hornemann T, Penno A, Richard S, Nicholson G, van Dijk FS, Rotthier A, Timmerman V, von Eckardstein A. (2009) A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics Apr;10(2):135-143. [PMID: 20019802]

Vance C, Rogeli B, Hortobágyi, De Vos KJ, Nishimura AL, Sreedaran J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, De Belleroche J, Gallo JM, Miller CC, Shaw CE. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.Science. Feb 323(5918): 1208-1211. [PMID:1925628]

Kennerson M, Nicholson G, Kowalski B, Krajewski K, El-Khechen D, Feely S, Chu S, Shy M, Garbern JY. (2009) X-linked distal hereditary neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.Neurology Jan;72(3) 246-252. [PMID: 19153371]

Nicholson G, Kennerson M, Brewer M, Garbern J, Shy M. (2009) Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. Adv Exp Biol ;652:201-206. [PMID: 19153371]


2008

Nicholson GA, Magdelaine C, Zhu D, Grew S, Ryan MM, Sturtz F, Vallat JM, Ouvrier RA. (2008) Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 70:1678-81.

Van De Giessen E, Fogh I, Gopinath S, Smith B, Hu X, Powell J, Andersen P, Nicholson G, Al Chalabi A, Shaw CE. (2008). Association study on glutathione S-transferase omega 1 and 2 and familial ALS. Amyotroph Lateral Scler. Apr;9(2):81-84 [PMID:18427999]

Blair IP, Vance C, Durnall JC, Williams KL, Thoeng A, Shaw CE, Nicholson GA. (2008). CHMP2B mutations are not a common cause of familial or sporadic ALS. Journal of Neurology, Neurosurgery and Psychiatry Jul;79(7):849-850

Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson GA, Shaw CE. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 319:1668-72

Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G and Kennerson M (2008) Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics Jul; 9(3) 191-5.

Vallat JM, Ouvrier RA, Pollard JD, Magdelaine C, Zhu D, Nicholson GA, Grew S, Ryan MM, Funalot B. (2008) Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol. 67:1097-102

Luty AA, Kwok JB, Thompson EM, Blumbergs P, Brooks WS, Loy CT, Dobson-Stone C, Panegyres PK, Hecker J, Nicholson GA, Halliday GM, Schofield PR. (2008) Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol. 29;8:32.

Vucic S, Nicholson GA, Kiernan MC. (2008) Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. Brain. 131:1540-50.

Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, Destefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. (2008) The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's Disease: the GenePD study. BMC Med. Nov 5;6(1):32.

McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. (2008) Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 23(11):1596-601.

DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. (2008) Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet. 124(1):95-9.

Reddel S, Ouvrier RA, Nicholson G, Dierick I, Irobi J, Timmerman V, Ryan MM. (2008) Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones? Neuromuscul Disord. 18:530-5. Review.

Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. (2008) Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology.;71:28-34.