Genetics of familial Amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a late onset, rapidly progressive and ultimately fatal neurodegenerative disease, caused by the loss of motor neurons in the brain and spinal cord. About 10% of all ALS cases are familial (FALS), and constitute a clinically and genetically heterogeneous entity. To date, FALS has been linked to mutations in 10 different genes and to four additional chromosomal loci. Research on FALS genetics, and in particular the discoveries of mutations in the SOD1, TARDBP, and FUS genes, has provided essential information toward the understanding of the pathogenesis of ALS in general. This review presents a tentative classification of all FALS-associated genes identified so far.

[1]  Yusuke Nakamura,et al.  Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese , 2012, Neurobiology of Aging.

[2]  Robert H. Brown,et al.  Mutational analysis of TARDBP in neurodegenerative diseases , 2011, Neurobiology of Aging.

[3]  C. Wessig,et al.  C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany , 2011, Neurobiology of Aging.

[4]  Yi-Chung Lee,et al.  FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS , 2011, Neurobiology of Aging.

[5]  L. Hazrati,et al.  A novel double mutation in FUS gene causing sporadic ALS , 2011, Neurobiology of Aging.

[6]  E. Matsubara,et al.  A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: A clinical, pathological and genetic report , 2010, Journal of the Neurological Sciences.

[7]  W. Engel,et al.  Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia , 2010, Neurology.

[8]  A. Ludolph,et al.  Novel missense and truncating mutations in FUS/TLS in familial ALS , 2010, Neurology.

[9]  A. Eisen,et al.  Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis , 2010, Muscle & nerve.

[10]  Robert H. Brown,et al.  Paraoxonase gene mutations in amyotrophic lateral sclerosis , 2010, Annals of neurology.

[11]  N. Ticozzi,et al.  Protein aggregation and defective RNA metabolism as mechanisms for motor neuron damage. , 2010, CNS & neurological disorders drug targets.

[12]  Takeo Kato,et al.  Mutations of optineurin in amyotrophic lateral sclerosis , 2010, Nature.

[13]  A. Goris,et al.  The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS , 2010, European journal of neurology.

[14]  P. Andersen,et al.  Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? , 2010, Journal of Neurology, Neurosurgery & Psychiatry.

[15]  D. Cleveland,et al.  TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. , 2010, Human molecular genetics.

[16]  J. Highley,et al.  Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. , 2010, Archives of neurology.

[17]  J. Landers,et al.  RNA processing pathways in amyotrophic lateral sclerosis , 2010, neurogenetics.

[18]  P. Trillenberg,et al.  The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case , 2010, Clinical genetics.

[19]  K. Sleegers,et al.  Genetic contribution of FUS to frontotemporal lobar degeneration , 2010, Neurology.

[20]  G. Bernardi,et al.  SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis , 2010, Brain : a journal of neurology.

[21]  M. Strong.  The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS) , 2010, Journal of the Neurological Sciences.

[22]  M. Kiernan,et al.  FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis , 2009, Journal of Neurology, Neurosurgery & Psychiatry.

[23]  J. V. van Swieten,et al.  Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration , 2009, Journal of Neurology.

[24]  P. Shannon,et al.  Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.

[25]  I. Tikhonova,et al.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing , 2009, Proceedings of the National Academy of Sciences.

[26]  H. Kretzschmar,et al.  A new subtype of frontotemporal lobar degeneration with FUS pathology. , 2009, Brain : a journal of neurology.

[27]  G. Comi,et al.  Mutations of FUS gene in sporadic amyotrophic lateral sclerosis , 2009, Journal of Medical Genetics.

[28]  D. Munoz,et al.  FUS pathology in basophilic inclusion body disease , 2009, Acta Neuropathologica.

[29]  J. Landers,et al.  Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort , 2009, Neurology.

[30]  V. Meininger,et al.  Mutations in FUS cause FALS and SALS in French and French Canadian populations , 2009, Neurology.

[31]  M. Lavin,et al.  Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. , 2009, Human molecular genetics.

[32]  T. Miki,et al.  Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis , 2009, Journal of the Neurological Sciences.

[33]  A. Chiò,et al.  Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation , 2009, Neurobiology of Aging.

[34]  N. Bresolin,et al.  TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations , 2009, European journal of neurology.

[35]  J. Prehn,et al.  Angiogenin protects motoneurons against hypoxic injury , 2009, Cell Death and Differentiation.

[36]  Andrew Menzies,et al.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation , 2009, Nature Genetics.

[37]  B. Castellotti,et al.  High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis , 2009, Human mutation.

[38]  Xun Hu,et al.  Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.

[39]  A. Goris,et al.  TDP-43 M311V mutation in familial amyotrophic lateral sclerosis , 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

[40]  V. Olkkonen,et al.  ALS‐linked P56S‐VAPB, an aggregated loss‐of‐function mutant of VAPB, predisposes motor neurons to ER stress‐related death by inducing aggregation of co‐expressed wild‐type VAPB , 2009 .

[41]  R. Ophoff,et al.  A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I ANG MUTATION , 2009, Neurology.

[42]  M. Farrer,et al.  DCTN1 mutations in Perry syndrome , 2009, Nature Genetics.

[43]  Robert H. Brown,et al.  Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. , 2009, American journal of human genetics.

[44]  P. Tonali,et al.  SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis , 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

[45]  Wanjin Chen,et al.  A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis , 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

[46]  Christos Proukakis,et al.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms , 2008, The Lancet Neurology.

[47]  V. Meininger,et al.  Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. , 2008, Archives of neurology.

[48]  J. Trojanowski,et al.  Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. , 2008, Archives of neurology.

[49]  D. Geschwind,et al.  Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis , 2008, PLoS genetics.

[50]  P. Andersen,et al.  Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden , 2008, Neurology.

[51]  B. McConkey,et al.  TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis , 2008, Nature Genetics.

[52]  Murray Grossman,et al.  TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis , 2008, The Lancet Neurology.

[53]  A. Al-Chalabi,et al.  New VAPB deletion variant and exclusion of VAPB mutations in familial ALS , 2008, Neurology.

[54]  J. Morris,et al.  TDP‐43 A315T mutation in familial motor neuron disease , 2008, Annals of neurology.

[55]  Xun Hu,et al.  TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis , 2008, Science.

[56]  H. Coon,et al.  Neuropathy target esterase gene mutations cause motor neuron disease. , 2008, American journal of human genetics.

[57]  B. Castellotti,et al.  Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis , 2008, Neurogenetics.

[58]  A. Tessitore,et al.  A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy , 2008, Neuromuscular Disorders.

[59]  Y. Koh,et al.  hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction. , 2008, Human molecular genetics.

[60]  Robert H. Brown,et al.  A common haplotype within the PON1 promoter region is associated with sporadic ALS , 2008, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

[61]  A. Iafrate,et al.  Angiogenin loss‐of‐function mutations in amyotrophic lateral sclerosis , 2007, Annals of neurology.

[62]  S. Morrison,et al.  Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice , 2007, Proceedings of the National Academy of Sciences.

[63]  S. Cronin,et al.  Paraoxonase promoter and intronic variants modify risk of sporadic amyotrophic lateral sclerosis , 2007, Journal of Neurology, Neurosurgery & Psychiatry.

[64]  J. Lupski,et al.  Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J , 2007, Nature.

[65]  M. Gatei,et al.  Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage , 2007, The Journal of cell biology.

[66]  Ying Feng,et al.  A new role for angiogenin in neurite growth and pathfinding: implications for amyotrophic lateral sclerosis. , 2007, Human molecular genetics.

[67]  R. Trent,et al.  A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis. , 2007, Neurotoxicology.

[68]  M. Ruberg,et al.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum , 2007, Nature Genetics.

[69]  H. Gehring,et al.  Identification and characterization of the nuclear localization/retention signal in the EWS proto-oncoprotein. , 2006, Journal of molecular biology.

[70]  Bruce L. Miller,et al.  Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis , 2006, Science.

[71]  I. Nishimoto,et al.  Characterization of Amyotrophic Lateral Sclerosis-linked P56S Mutation of Vesicle-associated Membrane Protein-associated Protein B (VAPB/ALS8)* , 2006, Journal of Biological Chemistry.

[72]  D. Cleveland,et al.  ALS: A Disease of Motor Neurons and Their Nonneuronal Neighbors , 2006, Neuron.

[73]  Jeremy G. Carlton,et al.  The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport , 2006, Journal of Cell Science.

[74]  R. Raines,et al.  Genetic selection for critical residues in ribonucleases. , 2006, Journal of molecular biology.

[75]  J. Haines,et al.  Paraoxonase cluster polymorphisms are associated with sporadic ALS , 2006, Neurology.

[76]  M. Małecki,et al.  Paraoxonase gene polymorphisms and sporadic ALS , 2006, Neurology.

[77]  Robert H. Brown,et al.  Molecular biology of amyotrophic lateral sclerosis: insights from genetics , 2006, Nature Reviews Neuroscience.

[78]  N. Bresolin,et al.  The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. , 2006, Brain : a journal of neurology.

[79]  O. Boespflug-Tanguy,et al.  Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis , 2006, Annals of neurology.

[80]  G. Hicks,et al.  TLS, EWS and TAF15: a model for transcriptional integration of gene expression. , 2006, Briefings in functional genomics & proteomics.

[81]  S. Ennis,et al.  ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis , 2006, Nature Genetics.

[82]  E. Buratti,et al.  TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal Tail , 2005, Journal of Biological Chemistry.

[83]  J. Kassubek,et al.  Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis , 2005, Annals of neurology.

[84]  Ahmet Hoke,et al.  Loss of ALS2 Function Is Insufficient to Trigger Motor Neuron Degeneration in Knock-Out Mice But Predisposes Neurons to Oxidative Stress , 2005, The Journal of Neuroscience.

[85]  G. Hicks,et al.  The RNA Binding Protein TLS Is Translocated to Dendritic Spines by mGluR5 Activation and Regulates Spine Morphology , 2005, Current Biology.

[86]  S. Ennis,et al.  A novel candidate region for ALS on chromosome 14q11.2 , 2004, Neurology.

[87]  T. Gillingwater,et al.  A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. , 2004, American journal of human genetics.

[88]  V. Meininger,et al.  A Frameshift Deletion in Peripherin Gene Associated with Amyotrophic Lateral Sclerosis* , 2004, Journal of Biological Chemistry.

[89]  A. Ludolph,et al.  Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS , 2004, Neurology.

[90]  S. Chin,et al.  A Pathogenic Peripherin Gene Mutation in a Patient with Amyotrophic Lateral Sclerosis , 2004, Brain pathology.

[91]  John W Griffin,et al.  DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). , 2004, American journal of human genetics.

[92]  P. Carmeliet,et al.  VEGF delivery with retrogradely transported lentivector prolongs survival in a mouse ALS model , 2004, Nature.

[93]  M. Zatz,et al.  A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 , 2004, Journal of Medical Genetics.

[94]  J. Schulz,et al.  Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 , 2004, Nature Genetics.

[95]  A. Hays,et al.  Expression of peripherin in ubiquinated inclusions of amyotrophic lateral sclerosis , 2004, Journal of the Neurological Sciences.

[96]  E. Bertini,et al.  Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[97]  D. Lev,et al.  The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblings , 2003, Clinical genetics.

[98]  John Mitchell,et al.  A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. , 2003, American journal of human genetics.

[99]  J. Haines,et al.  Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. , 2003, American journal of human genetics.

[100]  C. Lewis,et al.  Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. , 2003, American journal of human genetics.

[101]  Shuh Narumiya,et al.  ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. , 2003, Human molecular genetics.

[102]  T. Siddique,et al.  A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis , 2003, Neuroepidemiology.

[103]  Robert H. Brown,et al.  Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. , 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

[104]  Shin J. Oh,et al.  Mutant dynactin in motor neuron disease , 2003, Nature Genetics.

[105]  A Hofman,et al.  Genetic epidemiology of amyotrophic lateral sclerosis , 2003, Clinical genetics.

[106]  Manho Kim,et al.  A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis , 2003, Journal of the Neurological Sciences.

[107]  M. Hayden,et al.  An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred , 2003, Annals of neurology.

[108]  D. Howland,et al.  Disruption of Dynein/Dynactin Inhibits Axonal Transport in Motor Neurons Causing Late-Onset Progressive Degeneration , 2002, Neuron.

[109]  Robert H. Brown,et al.  Rats Expressing Human Cytosolic Copper–Zinc Superoxide Dismutase Transgenes with Amyotrophic Lateral Sclerosis: Associated Mutations Develop Motor Neuron Disease , 2001, The Journal of Neuroscience.

[110]  M. Pericak-Vance,et al.  The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis , 2001, Nature Genetics.

[111]  S. Scherer,et al.  A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 , 2001, Nature Genetics.

[112]  T. Wienker,et al.  Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 , 2001, Nature Genetics.

[113]  H. Miyajima,et al.  A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis , 1999, Neuroscience Letters.

[114]  J. Julien,et al.  Late Onset Death of Motor Neurons in Mice Overexpressing Wild-Type Peripherin , 1999, The Journal of cell biology.

[115]  R. Orrell,et al.  Clinical characteristics of SOD1 gene mutations in UK families with ALS , 1999, Journal of the Neurological Sciences.

[116]  A Al-Chalabi,et al.  Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. , 1999, Human molecular genetics.

[117]  D. Borchelt,et al.  Caspase-1 is activated in neural cells and tissue with amyotrophic lateral sclerosis-associated mutations in copper-zinc superoxide dismutase. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[118]  M. Pericak-Vance,et al.  Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers , 1998, Neurogenetics.

[119]  P. Sham,et al.  Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. , 1998, Human molecular genetics.

[120]  M. Ohki,et al.  Genomic structure of the human RBP56/hTAFII68 and FUS/TLS genes. , 1998, Gene.

[121]  M. Scavina,et al.  Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. , 1998, American journal of human genetics.

[122]  J. Powell,et al.  Copper and zinc levels in familial amyotrophic lateral sclerosis patients with cuznsod gene mutations , 1997, Annals of neurology.

[123]  H. Horvitz,et al.  Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis , 1997, Annals of neurology.

[124]  M. Pericak-Vance,et al.  Prognosis in Familial Amyotrophic Lateral Sclerosis , 1997, Neurology.

[125]  W. Robberecht,et al.  D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis , 1996, Neurology.

[126]  P. Andersen,et al.  Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. , 1996, Brain : a journal of neurology.

[127]  M. Beal,et al.  Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury , 1996, Nature Genetics.

[128]  G. Rouleau,et al.  Analysis of the KSP repeat of the neurofilament heavy subunit in familial amyotrophic lateral sclerosis , 1996, Neurology.

[129]  Yasuto Itoyama,et al.  A novel two-base mutation in the CuZn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan , 1996, Neuroscience Letters.

[130]  R. Orrell,et al.  Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments. , 1995, Journal of medical genetics.

[131]  D Harrich,et al.  Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs , 1995, Journal of virology.

[132]  V. Meininger,et al.  Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. , 1994, Human molecular genetics.

[133]  J. Haines,et al.  Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 , 1994, Nature Genetics.

[134]  M. Gurney,et al.  Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. , 1994, Science.

[135]  J. Riordan,et al.  Nuclear translocation of angiogenin in proliferating endothelial cells is essential to its angiogenic activity. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[136]  Y. Itoyama,et al.  Mild ALS in Japan associated with novel SOD mutation , 1993, Nature Genetics.

[137]  M. Pericak-Vance,et al.  Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. , 1993, Science.

[138]  N. Mandahl,et al.  Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma , 1993, Nature.

[139]  J. Haines,et al.  Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis , 1993, Nature.

[140]  J. Haines,et al.  Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. , 1991, The New England journal of medicine.

[141]  W G Alvord,et al.  Familial Amyotrophic Lateral Sclerosis, 1850-1989: A Statistical Analysis of the World Literature , 1991, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[142]  M. Hamida,et al.  Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. , 1990, Brain : a journal of neurology.

[143]  M. Swash,et al.  Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease. , 1988, Journal of neurology, neurosurgery, and psychiatry.

[144]  L. Kurland,et al.  Familial adult motor neuron disease: amyotrophic lateral sclerosis , 1986, Neurology.

[145]  I. Fridovich,et al.  Superoxide dismutase. An enzymic function for erythrocuprein (hemocuprein). , 1969, The Journal of biological chemistry.

[146]  D. Silberberg,et al.  NERVE CONDUCTION AND OTHER STUDIES IN FAMILIES WITH CHARCOT-MARIE-TOOTH DISEASE. , 1964, Brain : a journal of neurology.

[147]  J. Shendure,et al.  Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2016 .

[148]  E. Buratti,et al.  Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. , 2008, Frontiers in bioscience : a journal and virtual library.

[149]  P. Carmeliet,et al.  VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death , 2003, Nature Genetics.