Nicolas Chrestian

McMillan HJ, Gonorazky H, Campbell C, Chrestian N, Crone M, Dowling JJ, Joyal K, Kolski H, Leung E, Mackenzie A, Mah JK, McAdam L, Nigro E, Nguyen CT, Oskoui M, Poulin C, Sheriko J, Tarnopolsky M, Vajsar J, Yaworski A, Selby K

Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies

Can J Neurol Sci, 2024.

| Liens:

Marmen MB, Orfi Z, Dort J, Proulx-Gauthier JP, Chrestian N, Dumont NA, Ellezam B

Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy

Acta Neuropathol, 146 (4), 2023.

| Liens:

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:

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:

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:

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:

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:

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:

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:

Picher-Martel V, Brunet F, Dupré N, Chrestian N

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature

J Child Neurol, 35 (8), 2020.

Résumé | Liens: