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101.
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Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. [electronic resource] by
- Stutterd, C A
- Lake, N J
- Peters, H
- Lockhart, P J
- Taft, R J
- van der Knaap, M S
- Vanderver, A
- Thorburn, D R
- Simons, C
- Leventer, R J
Publication details: JIMD reports 2019
In:
JIMD reports vol. 43
Availability: No items available.
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102.
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Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. [electronic resource] by
- van der Knaap, M S
- Linnankivi, T
- Paetau, A
- Feigenbaum, A
- Wakusawa, K
- Haginoya, K
- Köhler, W
- Henneke, M
- Dinopoulos, A
- Grattan-Smith, P
- Brockmann, K
- Schiffmann, R
- Blaser, S
Producer: 20070813
In:
Neurology vol. 69
Availability: No items available.
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103.
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COL4A1 mutations associated with a characteristic pattern of intracranial calcification. [electronic resource] by
- Livingston, J
- Doherty, D
- Orcesi, S
- Tonduti, D
- Piechiecchio, A
- La Piana, R
- Tournier-Lasserve, E
- Majumdar, A
- Tomkins, S
- Rice, G
- Kneen, R
- van der Knaap, M
- Crow, Y
Producer: 20120403
In:
Neuropediatrics vol. 42
Availability: No items available.
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104.
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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. [electronic resource] by
- Timmons, M
- Tsokos, M
- Asab, M Abu
- Seminara, S B
- Zirzow, G C
- Kaneski, C R
- Heiss, J D
- van der Knaap, M S
- Vanier, M T
- Schiffmann, R
- Wong, K
Producer: 20070108
In:
Neurology vol. 67
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105.
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106.
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Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. [electronic resource] by
- Wolf, N I
- Willemsen, M A A P
- Engelke, U F
- van der Knaap, M S
- Pouwels, P J W
- Harting, I
- Zschocke, J
- Sistermans, E A
- Rating, D
- Wevers, R A
Producer: 20040903
In:
Neurology vol. 62
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107.
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108.
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Alexander disease: diagnosis with MR imaging. [electronic resource] by
- van der Knaap, M S
- Naidu, S
- Breiter, S N
- Blaser, S
- Stroink, H
- Springer, S
- Begeer, J C
- van Coster, R
- Barth, P G
- Thomas, N H
- Valk, J
- Powers, J M
Producer: 20010614
In:
AJNR. American journal of neuroradiology vol. 22
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109.
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D-2-hydroxyglutaric aciduria: further clinical delineation. [electronic resource] by
- van der Knaap, M S
- Jakobs, C
- Hoffmann, G F
- Duran, M
- Muntau, A C
- Schweitzer, S
- Kelley, R I
- Parrot-Roulaud, F
- Amiel, J
- De Lonlay, P
- Rabier, D
- Eeg-Olofsson, O
Producer: 19990923
In:
Journal of inherited metabolic disease vol. 22
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110.
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111.
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Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. [electronic resource] by
- Meyer, E
- Kurian, M A
- Morgan, N V
- McNeill, A
- Pasha, S
- Tee, L
- Younis, R
- Norman, A
- van der Knaap, M S
- Wassmer, E
- Trembath, R C
- Brueton, L
- Maher, E R
Producer: 20120315
In:
Molecular genetics and metabolism vol. 104
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112.
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N-acetylaspartylglutamate in CNS hypomyelination. [electronic resource] by
- Wamelink, M M C
- Struys, E
- Holwerda, U
- Sistermans, E A
- van Spaendonk, R M L
- Halley, D
- Willemsen, M A A P
- Jakobs, C
- van der Knaap, M S
- Wolf, N I
Producer: 20111025
In:
Neuropediatrics vol. 42
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113.
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Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. [electronic resource] by
- van der Knaap, M S
- Ramesh, V
- Schiffmann, R
- Blaser, S
- Kyllerman, M
- Gholkar, A
- Ellison, D W
- van der Voorn, J P
- van Dooren, S J M
- Jakobs, C
- Barkhof, F
- Salomons, G S
Producer: 20060320
In:
Neurology vol. 66
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114.
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Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. [electronic resource] by
- Mancini, G M S
- Catsman-Berrevoets, C E
- de Coo, I F M
- Aarsen, F K
- Kamphoven, J H J
- Huijmans, J G
- Duran, M
- van der Knaap, M S
- Jakobs, C
- Salomons, G S
Producer: 20050315
In:
American journal of medical genetics. Part A vol. 132A
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115.
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Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. [electronic resource] by
- Serkov, S V
- Pronin, I N
- Bykova, O V
- Maslova, O I
- Arutyunov, N V
- Muravina, T I
- Kornienko, V N
- Fadeeva, L M
- Marks, H
- Bönnemann, C
- Schiffmann, R
- van der Knaap, M S
Producer: 20040506
In:
Neuropediatrics vol. 35
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116.
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Genotype-phenotype correlation in vanishing white matter disease. [electronic resource] by
- van der Lei, H D W
- van Berkel, C G M
- van Wieringen, W N
- Brenner, C
- Feigenbaum, A
- Mercimek-Mahmutoglu, S
- Philippart, M
- Tatli, B
- Wassmer, E
- Scheper, G C
- van der Knaap, M S
Producer: 20101112
In:
Neurology vol. 75
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117.
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Clinical features and X-inactivation in females heterozygous for creatine transporter defect. [electronic resource] by
- van de Kamp, J M
- Mancini, G M S
- Pouwels, P J W
- Betsalel, O T
- van Dooren, S J M
- de Koning, I
- Steenweg, M E
- Jakobs, C
- van der Knaap, M S
- Salomons, G S
Producer: 20110524
In:
Clinical genetics vol. 79
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118.
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Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. [electronic resource] by
- Leegwater, P A J
- Boor, P K I
- Yuan, B Q
- van der Steen, J
- Visser, A
- Könst, A A M
- Oudejans, C B M
- Schutgens, R B H
- Pronk, J C
- van der Knaap, M S
Producer: 20020521
In:
Human genetics vol. 110
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119.
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Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency. [electronic resource] by
- de Lonlay-Debeney, P
- von Kleist-Retzow, J C
- Hertz-Pannier, L
- Peudenier, S
- Cormier-Daire, V
- Berquin, P
- Chrétien, D
- Rötig, A
- Saudubray, J M
- Baraton, J
- Brunelle, F
- Rustin, P
- Van Der Knaap, M
- Munnich, A
Producer: 20000321
In:
The Journal of pediatrics vol. 136
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120.
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Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. [electronic resource] by
- Morris-Rosendahl, D J
- Najm, J
- Lachmeijer, A M A
- Sztriha, L
- Martins, M
- Kuechler, A
- Haug, V
- Zeschnigk, C
- Martin, P
- Santos, M
- Vasconcelos, C
- Omran, H
- Kraus, U
- Van der Knaap, M S
- Schuierer, G
- Kutsche, K
- Uyanik, G
Producer: 20081215
In:
Clinical genetics vol. 74
Availability: No items available.
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