Nicolas Chrestian

Alsubhi S, Osterman B, Chrestian N, Dubeau F, Buhas D, Srour M

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

Front Neurol, 13 , 2022.

Résumé | Liens:

Doré-Brabant G, Laflamme G, Millette M, Osterman B, Chrestian N

Adrenal insufficiency among children treated with hormonal therapy for infantile spasms

Epilepsia, 63 (9), 2022.

Résumé | Liens:

Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I

Case Report: Two Families With HPDL Related Neurodegeneration

Front Genet, 13 , 2022.

Résumé | Liens:

Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, , Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

Am J Hum Genet, 108 (10), 2021.

Résumé | Liens:

Laflamme N, Lace B, Thonta Setty S, Rioux N, Labrie Y, Droit A, Chrestian N, Rivest S

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

Front Neurol, 12 , 2021.

Résumé | Liens:

Pal M, Lace B, Labrie Y, Laflamme N, Rioux N, Setty ST, Dugas MA, Gosselin L, Droit A, Chrestian N, Rivest S

A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy

JIMD Rep, 59 (1), 2021.

Résumé | Liens:

Hodgkinson V, Lounsberry J, M'Dahoma S, Russell A, Jewett G, Benstead T, Brais B, Campbell C, Johnston W, Lochmüller H, McCormick A, Nguyen CT, O'Ferrall E, Oskoui M, Abrahao A, Briemberg H, Bourque PR, Botez S, Cashman N, Chapman K, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Grant I, Hasal S, Izenberg A, Kalra S, Katzberg H, Krieger C, Leung E, Linassi G, Mackenzie A, Mah JK, Marrero A, Massie R, Matte G, McAdam L, McMillan H, Melanson M, Mezei MM, O'Connell C, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg K, Selby K, Sheriko J, Shoesmith C, Smith RG, Taillon M, Taylor S, Venance S, Warman-Chardon J, Worley S, Zinman L, Korngut L

The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

J Neuromuscul Dis, 8 (1), 2021.

Résumé | Liens:

Dermer E, Spahr A, Tran LT, Mirchi A, Pelletier F, Guerrero K, Ahmed S, Brais B, Braverman N, Buhas D, Chandratre S, Chenier S, Chrestian N, Desmeules M, Dilenge ME, Laflamme J, Larbrisseau A, Legault G, Lim KY, Maftei C, Major P, Malvey-Dorn E, Marois P, Mitchell J, Nadeau A, Osterman B, Paradis I, Pohl D, Reggin J, Riou E, Roedde G, Rossignol E, Sébire G, Shevell M, Srour M, Sylvain M, Tarnopolsky M, Venkateswaran S, Sullivan M, Bernard G

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

J Child Neurol, 35 (13), 2020.

Résumé | Liens:

Katzberg HD, Vajsar J, Vezina K, Qashqari H, Selvadurai S, Chrestian N, Khayat A, Ryan CM, Narang I

Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis

J Child Neurol, 35 (9), 2020.

Résumé | Liens:

Picher-Martel V, Labrie Y, Rivest S, Lace B, Chrestian N

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

BMC Neurol, 20 (1), 2020.

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