2019
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Wassink-Ruiter JSK, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2019 Oct 3. doi: 10.1038/s41436-019-0657-0.
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.
Uccella S, Accogli A*, Tortora D, Mancardi MM, Nobili L, Berloco B, Morana G, Striano P, Capra V, Srour M, Saint-Martine C, Rossi A, Severino M. Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. J Neurol. 2019 May;266(5):1167-1181. doi: 10.1007/s00415-019-09247-7. Epub 2019 Feb 22.
Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia. Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28.
Vosberg DE, Beaulé V, Torres-Berrío A, Cooke D, Chalupa A, Jaworska N, Cox SML, Larcher K, Zhang Y, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Tampieri D, La Piana R, Joober R, Lepore F, Rouleau G, Pascual-Leone A, Fox MD, Flores C, Leyton M, Théoret H. Neural function in DCC mutation carriers with and without mirror movements. Ann Neurol. 2019 Mar;85(3):433-442. doi: 10.1002/ana.25418. Epub 2019 Feb 4.
Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M. Diagnostic Yield of Intellectual Disability Gene Panels. Pediatr Neurol. 2019 Mar; 92:32-36. doi: 10.1016/j.pediatrneurol.2018.11.005. Epub 2018 Nov 22.
Pinchefsky E, Accogli A, Shevell MI, Saint-Martin C, Srour M. Developmental outcomes in children with congenital cerebellar malformations. Dev Med Child Neurol. 2019 Mar;61(3):350-358. doi: 10.1111/dmcn.14059. Epub 2018 Oct 15.
2018
Myers KA, Dudley R, Srour M. Hemiconvulsion-Hemiplegia-Epilepsy in a Girl with Cobalamin C Deficiency.Epileptic disorders. 2018 Dec 1;20(6):545-550. doi: 10.1684/epd.2018.1017.
Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy. Pediatr Neurol. 2018 Jul; 84:21-26. doi: 10.1016/j.pediatrneurol.2018.03.015. Epub 2018 Apr 9.
Accogli A, Srour M. Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis. Neurology. 2018 May 15;90(20): e1832-e1833. doi: 10.1212/WNL.0000000000005531.
Vosberg DE, Zhang Y, Menegaux A, Chalupa A, Manitt C, Zehntner S, Eng C, DeDuck K, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Joober R, Lepore F, Rouleau G, Théoret H, Bedell BJ, Flores C, Leyton M. Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers. J Neurosci. 2018 May 16;38(20):4655-4665. doi: 10.1523/JNEUROSCI.3251-17.2018. Epub 2018 Apr 30.
Alawadhi A, Saint-Martin C, Bhanji F, Srour M, Atkinson J, Sébire G. Acute Hemorrhagic Encephalitis Responding to Combined Decompressive Craniectomy, Intravenous Immunoglobulin, and Corticosteroid Therapies: Association with Novel RANBP2 Variant. Front Neurol. 2018 Mar 12; 9:130. doi: 10.3389/fneur.2018.00130. eCollection 2018.
Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 Feb 15;378(7):625-635. doi: 10.1056/NEJMoa1710504.
Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium, Vanderver A, Bernard G. Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21
Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M. A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies. Am J Med Genet A. 2018 Feb 12. doi: 10.1002/ajmg.a.38628.
da Silva RV, Johannssen HC, Wyss MT, Roome RB, Bourojeni FB, Stifani N, Marsh APL, Ryan MM, Lockhart PJ, Leventer RJ, Richards LJ, Rosenblatt B, Srour M, Weber B, Zeilhofer HU, Kania A. DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans. Cell Rep. 2018 Jan 30;22(5):1105-1114. doi: 10.1016/j.celrep.2018.01.004.
2017
Pinchefsky E, Laneuville L, Srour M. Distal 22q11.2 Microduplication: Case Report and Review of the Literature. Child Neurol Open. 2017 Nov 1; 4:2329048X17737651. doi: 10.1177/2329048X17737651. eCollection 2017 Jan-Dec.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, … Srour M, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.
Shakeri M, Datta AN, Malfait D, Oser N, Létourneau-Guillon L, Major P, Srour M, Tucholka A, Kadoury S, Lippé S. Sub-cortical brain morphometry and its relationship with cognition in rolandic epilepsy. Epilepsy Res. 2017 Dec; 138:39-45. doi: 10.1016/j.eplepsyres.2017.09.007. Epub 2017 Oct 7.
Al Amrani F, Dudley R, Bello-Espinosa LE, Rosenblatt B, Srour M, Sébire G. Intravenous Immunoglobulin as a Treatment for Intractable Epilepsy Secondary to Focal Cortical Dysplasia: A Meta-analysis. Pediatr Neurol. 2017 Nov; 76:79-81. doi: 10.1016/j.pediatrneurol.2017.07.009. Epub 2017 Jul 19.
Méneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guérois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chédotal A, Dusart I, Roze E, Markie D. Mutations in the netrin-1 gene cause congenital mirror movements. J Clin Invest. 2017 Sep 25. pii: 95442. doi: 10.1172/JCI95442.
Alt C, Shevell MI, Poulin C, Rosenblatt B, Saint-Martin C, Srour M. Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases. J Child Neurol. 2017 Aug; 32(9):797-803. doi: 10.1177/0883073817707300. Epub 2017 May 8.
Lacaria M, Srour M, Michaud JL, Doja A, Miller E, Schwartzentruber J, Goldsmith C, Majewski J; FORGE Canada Consortium, Boycott KM. Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet. Am J Med Genet A. 2017 Jun;173(6):1611-1619. doi: 10.1002/ajmg.a.38231. Epub 2017 Apr 21.
Srour M, Shimokawa N, Hamdan FF, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL. Dysfunction of the cerebral glucose transporter SLC45A1 in individuals with intellectual disability and epilepsy. Am J Hum Genet. 2017 May 4;100(5):824-830. doi: 10.1016/j.ajhg.2017.03.009.
Al Yazidi G, Shevell MI, Srour. M. Two Novel KCNQ2 Mutations in two families with Benign Familial Neonatal Convulsions. Child Neurology Open. In Press Child Neurol Open. 2017 Feb 23; 4:2329048X17691396. doi: 10.1177/2329048X17691396. eCollection 2017 Jan-Dec.
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.
2016
Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics.; University of Washington Center for Mendelian Genomics., Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 6;99 (4):831-845. doi: 10.1016/j.ajhg.2016.08.007.
Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JL. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 Apr. doi: 10.1002/humu.23004.
2015
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet. 2015 Oct.doi:10.1016/j.ajhg.2015.09.009.
Malfait D, Tucholka A, Mendizabal S, Tremblay J, Poulin C, Oskoui M, Srour M, Carmant L, Major P, Lippé S. fMRI brain response during sentence reading comprehension in children with benign epilepsy with centro-temporal spikes. Epilepsy Res. 2015 Aug 15;117:42-5 doi: 10.1016/j.epylepsyres.2015.08.009.
Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A, Rouleau GA, Michaud JL. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.Clin Genet. 2015 Apr 30. doi:10.1111/cge.12605
Almuqbil M, Srour M. Child Neurology: Anderson Tawil Syndrome. Neurology 2015 Mar 17;84(11): e78-80.doi:10.1212/WNL.0000000000001377.
Lee JR, Srour M, Kim D, Hamdan FF, Lim S-H, Brunel-Guitton C, Décarie J-C, Rossignol E, Schreiber A, Rocio M, Richardson R, Rahikkala E, Tyynismaa H, Cuppen I, Verbeek N, Stumpel CT, Willemsen MA, de Munnik S, Rouleau GA, Kim E, Kamsteeg E-J, Kleefstra T, Michaud JL. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy and cerebellar atrophy. Human Mutation. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709.
2014
D'Amours G, Langlois M, Mathonnet G, Fetni R, Nizard S, Srour M, Tihy F, Phillips MS, Michaud JL, Lemyre E. SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay. BMC Med Genomics. 2014 Dec 24; 7:70. doi: 10.1186/s12920-014-0070-0
Hamdan FF, Srour M, Capo-Chichi J-M, Daoud H, Nassif C, Patry L, Massicote C, Ambalavanan A, Spiegelman D, Henrion E, Diallo O, Dionne-Laporte A, Fougerat A, Pchejetski A, Rouleau GA, Michaud JL. De novo mutations in moderate or severe intellectual disability. PLOS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.10047472.
Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB. Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. Hum Genet. 2014 Aug 7. doi: 10.1007/s00439-014-1475-8.
Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI, FORGE consortium, O’Ferrall E, Buhas D, Majewski J, Brais B. Mutations in riboflavin transporter SLC52A2 cause a childhood sensory neuropathy with deafness. Muscle Nerve. 2014 Feb 24.doi: 10.1002/mus/24224 [24616084]
Al Yazidi G, Srour M, Wintermark P. Risk Factors for Intraventricular Hemorrhage in Term Asphyxiated Newborns Treated With Hypothermia. Pediatr Neurol. 2014 Jun; 50(6):630-5. Impact factor: 2.326.doi:10.1016/j.pediatrneurol.2014.01.054
Fasano A, Bologna M, Iezzi E, Pavone L, Srour M, Di Biasio F, Grillea G, Rouleau GA, Levert A, Sebastiano F, Colonnese C, Berardelli A. Congenital Mirror Movements in a New Italian Family. Mov. Disord Clin Pract. 2014 1(3): 180-187. doi: 10.1002/mdc3.12066.
2013
Srour M, Shevell MI. Genetics and the investigation of developmental delay/intellectual disability. Arch Dis Child. 2013 Dec 16. doi:10.1136/archdischild-2013-304063.
Almuqbil M*, Hamdan FF, Mathonnet G, Rosenblatt R, Srour M. De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability. Eur J Med Genet. 2013 Dec;56(12):686-8 doi:10.1016/j.ejmg.2013.10.003.
Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi J, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL. Recessive and dominant mutations in retinoic acid receptor beta cause microphthalmia and diaphragmatic hernia. Am J Hum Genet. 2013 Oct 3; 93(4):765-72. doi:10.1016/j.ajhg.2013.08.014
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Burtscher I, Srour M, Hamdan F, Uster T, Chitayat D, Jenkins ZA, Morgan T, Preitner N, Morrison V, Di Donato N, van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Paulien Terhal, Wilson LC, Zwijnenburg PJG, Sutherland-Smith AJ, Markie D, Michaud J, Simpson MA, Mansour S, McNeil H, Götz M, Robertson SP. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt mammalian neuroprogenitor cell proliferation, differentiation and cerebral cortical development. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22.
2012
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B, Consortium FC, Rouleau GA, Majewski J, Michaud JL. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet. 2012 Oct;49(10):636-41. (Editor’s choice).doi:10.1136/jmedgenet-2012-101132
Dufresne D, Hamdan FF, Rosenfeld JA, Torchia B, Rosenblatt B, Michaud JL, Srour M. Homozygous deletion of Tenascin-R in a patient with intellectual disability. J Med Genet. 2012 Jul;49(7):451-4.doi:10.1136/jmedgenet-2012-100831
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet. 2012;90(4):693-700.doi:10.1016/j.ajhg.2012.02.011
Lepage JF, Beaulé V, Srour M, Rouleau G, Pascual-Leone A, Lassonde M, Théoret H. Neurophysiological investigation of congenital mirror movements in a patient with agenesis of the corpus callosum. Brain Stimul. 2012;5(2):137-40. doi: 10.1016/j.brs.2011.02.004
2011
Tétreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP, Brais B. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. Can J Neurol Sci. 2011;38(5):747-52.doi:10.1017/s0317167100054135.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson 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. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet. 2011;89(2): 219-30.doi:10.1016/j.ajhg.2011.06.013
Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001
Srour M, Rioux MF, Varga C, Lortie A, Robitaille Y, Decarie JC, Michaud J, Carmant L. The clinical spectrum of nodular heterotopias in children: report of 31 patients. Epilepsia. 2011;52(4):728-37. 10.1111/j.1528-1167.2010.02975.
2010
Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, Poulin C, Mathieu J, Bouchard JP, Brais B. DOK7 mutations presenting as a proximal myopathy in French Canadian. Neuromuscul Disord
Srour M, Rivière JB, Pham J, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Dubé MP, Chouinard S, Charron C, Rouleau G. Mutations in DCC cause congenital mirror movements. Science. doi: 10.1126/science.1186463
Rivière JB, St-Onge J, Gaspar C, Diab S, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Dubé MP, Rouleau GA, Montreal Tourette Study Group. Genome–wide TDT analysis in French-Canadiens families with Tourette syndrome.The Canadian Journal of Neurological Sciences.2010;37(1):110-2. doi:10.1017/s0317167100009744
2009
Srour M, Philbert M, Dion M-H, Duquette A, Richer F, Rouleau GA, Chouinard S. Familial congenital mirror movements: report of a large 4-generation family. Neurology. 2009;73(9):729-31.doi:10.1212/WNL.0b013e3181b59bda
Rivière JB, Xiong L, Levchenko A, St-Onge J, Gaspar C, Dion Y, Lespérance P, Tellier G, Richer F, Chouinard S, Dubé MP, Rouleau GA, Montreal Tourette Study Group. Association of intronic variants of the BTBD9gene with Tourette syndrome. Archives of Neurology. 2009; 66(10):1267-72.doi:10.1001/archneurol.2009.213
2008
Srour M, Bejjani BA, Rorem EA, Hall N, Shaffer LG, Shevell MI. An instructive case of an-8 year old boy. Sem Pediatr Neurol. 2008;15(4):154-5; discussion 155-6.doi:10.1016/j.spen.20018.09.002
Srour M, Lespérance P, Richer F, Chouinard S. Psychopharmacology of tic disorders. J Can Acad Child Adolesc Psychiatry. 2008,17:150-9
Shevell M, Bejjani BA, Srour M*, Rorem A, Hall N and Shaffer L. Array Comparative Genomic Hybridization in Global Developmental Delay. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1101-8.doi:10.1002/ajmg.b.30730
2006
Rydz D, Srour M, Oskoui M, Marget N, Shiller M, Birnbaum R, Majnemer A, Shevell MI. Screening for Developmental Delay in the Setting of a Community Pediatric Clinic: a prospective assessment of parent-report questionnaires. Pediatrics. 2006;118:e1178-1186 doi:10.1542/peds.2006-0466
Srour M, Mazer B, Shevell M. Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global Developmental Delay. Pediatrics. 2006;118:139-145.doi:10.1542/peds.2005-2702
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