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Author/Creator Brunel‐Guitton, Catherine

2. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Issue 1 (11th February 2019)

Authors:
Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel‐Guitton, Catherine; Braverman, Nancy E.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
107
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Issue 1 (27th November 2014)

Authors:
Lee, Jae‐Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So‐Hee; Brunel‐Guitton, Catherine; Décarie, Jean‐Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M.E.J.; Wagner, Justin D.; Boyco...
Journal:
Human mutation
Issue:
Volume 36:Issue 1(2015:Jan.)
Page Start:
69
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development. Issue 1 (29th September 2021)

Authors:
Shelihan, Ivan; Rossignol, Elsa; Décarie, Jean‐Claude; Bonnefont, Jean‐Paul; Brivet, Michèle; Brunel‐Guitton, Catherine; Mitchell, Grant A.
Journal:
JIMD reports
Issue:
Volume 63:Issue 1(2022)
Page Start:
3
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗