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BMJ Journals
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Genetics
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Genetics
Lessons and pitfalls of whole genome sequencing
Christopher J
Record
,
Mary M
Reilly
Practical Neurology
Mar 2024,
pn-2023-004083;
DOI:
10.1136/pn-2023-004083
Ehlers-Danlos syndromes: importance of defining the type
Fleur S
van Dijk
,
Neeti
Ghali
,
Arvind
Chandratheva
Practical Neurology
Apr 2024,
24
(2)
90-97;
DOI:
10.1136/pn-2023-003703
Kennedy’s disease
Helen
Devine
,
Matthew
Solomons
,
Luca
Zampedri
,
Michael G
Hanna
,
Carlo
Rinaldi
,
Pietro
Fratta
,
Dipa
Jayaseelan
Practical Neurology
Mar 2024,
pn-2023-004041;
DOI:
10.1136/pn-2023-004041
Dopa-responsive dystonia and paroxysmal dystonic attacks associated with
ATP1A3
gene variant
Míriam Carvalho
Soares
,
Jacy Bezerra
Parmera
,
Marcos Eugênio Ramalho
Bezerra
,
Rubens Gisbert
Cury
Practical Neurology
Mar 2024,
pn-2023-004045;
DOI:
10.1136/pn-2023-004045
Genomic testing in neurology
Vani
Jain
,
Rachel
Irving
,
Angharad
Williams
Practical Neurology
Oct 2023,
23
(5)
420-429;
DOI:
10.1136/pn-2023-003735
Phenylketonuria in three siblings
Igor
de Assis Franco
,
Ane Maria dos Anjos
Florinda
,
Fabrício Guimarães
Gonçalves
,
Marcelo Masruha
Rodrigues
,
Thiago Cardoso
Vale
Practical Neurology
Dec 2023,
23
(6)
525-526;
DOI:
10.1136/pn-2023-003815
Epilepsy genetics: a practical guide for adult neurologists
William Owen
Pickrell
,
Andrew E
Fry
Practical Neurology
Apr 2023,
23
(2)
111-119;
DOI:
10.1136/pn-2022-003623
Ictal aphasia in
LGI1
-related autosomal dominant epilepsy with auditory features
Patrick B
Moloney
,
John
McHugh
,
James
O’Byrne
,
Yudy
Llamas
,
Tim
Lynch
,
Eavan
McGovern
Practical Neurology
Aug 2022,
22
(4)
317-320;
DOI:
10.1136/practneurol-2022-003366
Primary progressive aphasia: ReADing the clinical GRANularity
Anthipa
Chokesuwattanaskul
,
Charles R
Marshall
,
Natasja
van Harskamp
,
Henry
Houlden
,
Jonathan D
Rohrer
,
Chris JD
Hardy
,
Jason D
Warren
Practical Neurology
Dec 2022,
22
(6)
509-514;
DOI:
10.1136/practneurol-2022-003460
Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics
Katherine R
Schon
,
Patrick F
Chinnery
Practical Neurology
Feb 2023,
23
(1)
2-3;
DOI:
10.1136/pn-2022-003570
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