Molecular Genetic Advances in Neurological DiseaseRANUM, Laura; LA SPADA, Al.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, 119 p., NSSerial Issue

Genetics of neurodegenerative diseases: insights from high-throughput resequencingTSUJI, Shoji.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R65-R70, NSArticle

A pivotal role for PINK1 and autophagy in mitochondrial quality control: implications for Parkinson diseaseCHU, Charleen T.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R28-R37, NSArticle

Pathogenic RNA repeats: an expanding role in genetic diseaseRANUM, Laura P. W; DAY, John W.Trends in genetics (Regular ed.). 2004, Vol 20, Num 10, pp 506-512, issn 0168-9525, 7 p.Article

Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promiseCHAMBERLAIN, Christopher M; RANUM, Laura P. W.Human molecular genetics (Print). 2012, Vol 21, Num 21, pp 4645-4654, issn 0964-6906, 10 p.Article

Myotonic dystrophy: RNA pathogenesis cornes into focusRANUM, Laura P. W; DAY, John W.American journal of human genetics. 2004, Vol 74, Num 5, pp 793-804, issn 0002-9297, 12 p.Article

Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approachesSCHMUCKER, Stéphane; PUCCIO, Hélène.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R103-R110, NSArticle

RNA-mediated neuromuscular disordersRANUM, Laura P. W; COOPER, Thomas A.Annual review of neuroscience. 2006, Vol 29, pp 259-277, issn 0147-006X, 19 p.Article

Molecular mechanisms of neurodegeneration in Alzheimer's diseaseCREWS, Leslie; MASLIAH, Eliezer.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R12-R20, NSArticle

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagyJU, Jeong-Sun; WEIHL, Conrad C.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R38-R45, NSArticle

Parkinson's disease: insights from pathwaysCOOKSON, Mark R; BANDMANN, Oliver.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R21-R27, NSArticle

Advances in understanding the molecular basis of FXTASGARCIA-AROCENA, Dolores; HAGERMAN, Paul J.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R83-R89, NSArticle

Huntington's disease: progress toward effective disease-modifying treatments and a cureJOHNSON, Carl D; DAVIDSON, Beverly L.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R98-R102, NSArticle

Partners in crime: bidirectional transcription in unstable microsatellite diseaseBATRA, Ranjan; CHARIZANIS, Konstantinos; SWANSON, Maurice S et al.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R77-R82, NSArticle

Current status on Alzheimer disease molecular genetics: from past, to present, to futureBETTENS, Karolien; SLEEGERS, Kristel; VAN BROECKHOVEN, Christine et al.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R4-R11, NSArticle

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegenerationLAGIER-TOURENNE, Clotilde; POLYMENIDOU, Magdalini; CLEVELAND, Don W et al.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R46-R64, NSArticle

Pluripotent stem cells in neurodegenerative and neurodevelopmental diseasesMARCHETTO, Maria C. N; WINNER, Beate; GAGE, Fred H et al.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R71-R76, NSArticle

Spinal muscular atrophy: mechanisms and therapeutic strategiesLORSON, Christian L; RINDT, Hansjorg; SHABABI, Monir et al.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R111-R118, NSArticle

Mutagenic roles of DNA repair proteins in antibody diversity and disease-associated trinucleotide repeat instabilitySLEAN, Meghan M; PANIGRAHI, Gagan B; RANUM, Laura P et al.DNA repair. 2008, Vol 7, Num 7, pp 1135-1154, issn 1568-7864, 20 p.Article

Molecular therapy in myotonic dystrophy: focus on RNA gain-of-functionMULDERS, Susan A. M; VAN ENGELEN, Baziel G. M; WIERINGA, Bé et al.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R90-R97, NSArticle

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotypeCOENEN, Marieke Jh; TIELEMAN, Alide A; SCHIJVENAARS, Mascha Mvap et al.European journal of human genetics. 2011, Vol 19, Num 5, pp 567-570, issn 1018-4813, 4 p.Article

DM2 intronic expansions : evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expressionMARGOLIS, Jamie M; SCHOSER, Benedikt G; MOSELEY, Melinda L et al.Human molecular genetics (Print). 2006, Vol 15, Num 11, pp 1808-1815, issn 0964-6906, 8 p.Article

Myotonic dystrophy type 2 in Japan : ancestral origin distinct from Caucasian familiesSAITO, Tsukasa; AMAKUSA, Yoshinobu; KIMURA, Takashi et al.Neurogenetics (Oxford. Print). 2008, Vol 9, Num 1, pp 61-63, issn 1364-6745, 3 p.Article

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9LIQUORI, Christina L; RICKER, Kenneth; MOSELEY, Melinda L et al.Science (Washington, D.C.). 2001, Vol 293, Num 5531, pp 864-867, issn 0036-8075Article

C90RF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of JapanISHIURA, Hiroyuki; TAKAHASHI, Yuji; DATE, Hidetoshi et al.Archives of neurology (Chicago). 2012, Vol 69, Num 9, pp 1154-1158, issn 0003-9942, 5 p.Article