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Mercimek‐Mahmutoglu, Saadet
57  results:
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1

Variable expressivity of a likely pathogenic variant in KCN..:

Hewson, Stacy ; Puka, Klajdi ; Mercimek‐Mahmutoglu, Saadet
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2226-2230 , 2017
Link: https://doi.org/10.1002/..
 
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2

BCAP31‐associated encephalopathy and complex movement disor..:

Albanyan, Saleh ; Al Teneiji, Amal ; Monfared, Nasim.
American Journal of Medical Genetics Part A.  173 (2017)  6 - p. 1640-1643 , 2017
Link: https://doi.org/10.1002/..
 
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3

MED23‐associated refractory epilepsy successfully treated w..:

Lionel, Anath C. ; Monfared, Nasim ; Scherer, Stephen W...
American Journal of Medical Genetics Part A.  170 (2016)  9 - p. 2421-2425 , 2016
Link: https://doi.org/10.1002/..
 
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4

Reply letter to Jinnah "Locus pocus" and Albanese "Complex ..:

Klein, Christine ; Lang, Anthony ; van de Warrenburg, Bart P....
Movement Disorders.  31 (2016)  11 - p. 1760-1762 , 2016
Link: https://doi.org/10.1002/..
 
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5

Nomenclature of genetic movement disorders: Recommendations..:

Marras, Connie ; Lang, Anthony ; van de Warrenburg, Bart P....
Movement Disorders.  31 (2016)  4 - p. 436-457 , 2016
Link: https://doi.org/10.1002/..
 
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6

Diagnostic yield of genetic testing in epileptic encephalop..:

Mercimek‐Mahmutoglu, Saadet ; Patel, Jaina ; Cordeiro, Dawn...
Epilepsia.  56 (2015)  5 - p. 707-716 , 2015
Link: https://doi.org/10.1111/..
 
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7

Bacterial expression of mutant argininosuccinate lyase reve..:

Engel, Katharina ; Vuissoz, Jean‐Marc ; Eggimann, Sandra...
Journal of Inherited Metabolic Disease.  35 (2011)  1 - p. 133-140 , 2011
Link: https://doi.org/10.1007/..
 
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8

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutat..:

Ngai, Ying Fai ; Chijiwa, Chieko ; Mercimek‐Mahmutoglu, Saadet...
American Journal of Medical Genetics Part A.  152A (2010)  11 - p. 2784-2790 , 2010
Link: https://doi.org/10.1002/..
 
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9

Folinic acid–responsive seizures are identical to pyridoxin..:

Gallagher, Renata C. ; Van Hove, Johan L. K. ; Scharer, Gunter...
Annals of Neurology.  65 (2009)  5 - p. 550-556 , 2009
Link: https://doi.org/10.1002/..
 
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10

Fright is a provoking factor in vanishing white matter dise..:

Vermeulen, Gerre ; Seidl, Rainer ; Mercimek‐Mahmutoglu, Saadet...
Annals of Neurology.  57 (2005)  4 - p. 560-563 , 2005
Link: https://doi.org/10.1002/..
 
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11

Long-term outcome of patients with X-linked adrenoleukodyst..:

Tran, Christel ; Patel, Jaina ; Stacy, Hewson...
European Journal of Paediatric Neurology.  21 (2017)  4 - p. 600-609 , 2017
Link: https://doi.org/10.1016/..
 
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12

A New Patient With Intermediate Severe Salla Disease With H..:

Barmherzig, Rebecca ; Bullivant, Garrett ; Cordeiro, Dawn...
Pediatric Neurology.  74 (2017)  - p. 87-91.e2 , 2017
Link: https://doi.org/10.1016/..
 
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13

Nomenclature of genetic movement disorders: Recommendations..:

Marras, Connie ; Lang, Anthony ; van de Warrenburg, Bart P....
Movement Disorders.  32 (2017)  5 - p. 724-725 , 2017
Link: https://doi.org/10.1002/..
 
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14

Phenotypic and genotypic spectrum of congenital disorders o..:

Al Teneiji, Amal ; Bruun, Theodora U.J. ; Sidky, Sarah...
Molecular Genetics and Metabolism.  120 (2017)  3 - p. 235-242 , 2017
Link: https://doi.org/10.1016/..
 
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15

Epileptic Encephalopathy in Childhood: A Stepwise Approach ..:

Patel, Jaina ; Mercimek-Mahmutoglu, Saadet
The Indian Journal of Pediatrics.  83 (2016)  10 - p. 1164-1174 , 2016
Link: https://doi.org/10.1007/..
 
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